Disorders

This page contains details of Online Mendelian Inheritance in Man (OMIM) disorders.

These can be searched alphabetically below or please use the search bar on the top left of the page to find genes more generally through part of the gene name or other characteristics.

All | Numbers | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

0-9

17,20-lyase deficiency, isolated, 202110 (3)- CYP17A1

17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)- CYP17A1

2-aminoadipic 2-oxoadipic aciduria, 204750 (3)- DHTKD1

2-methylbutyrylglycinuria, 610006 (3)- ACADSB

3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)- HIBCH

3-M syndrome 1, 273750 (3)- CUL7

3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)- MCCC1

3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)- MCCC2

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)- SERAC1

3-methylglutaconic aciduria, type I, 250950 (3)- AUH

3-methylglutaconic aciduria, type III, 258501 (3)- OPA3

3-methylglutaconic aciduria, type V, 610198 (3)- DNAJC19

3-methylglutaconic aciduria, type VIII, 617248 (3)- HTRA2

46, XX sex reversal 4, 617480 (3)- NR5A1

46XX sex reversal 1, 400045 (4)- SRY

46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)- DHH

46XY sex reversal 1, 400044 (3)- SRY

46XY sex reversal 2, dosage-sensitive, 300018 (3)- NR0B1

46XY sex reversal 3, 612965 (3)- NR5A1

46XY sex reversal 6, 613762 (3)- MAP3K1

46XY sex reversal 7, 233420 (3)- DHH

46XY sex reversal 8, 614279 (3)- AKR1C2

46XY sex reversal 8, modifier of, 614279 (3)- AKR1C4

46XY sex reversal 9, 616067 (3)- ZFPM2

5-fluorouracil toxicity, 274270 (3)- DPYD

5-oxoprolinase deficiency, 260005 (3)- OPLAH

A

Aarskog-Scott syndrome, 305400 (3)- FGD1

Abacavir hypersensitivity, susceptibility to (3)- HLA-B

ABCD syndrome, 600501 (3)- EDNRB

Abdominal obesity-metabolic syndrome 3, 615812 (3)- DYRK1B

Abetalipoproteinemia, 200100 (3)- MTTP

Acampomelic campomelic dysplasia, 114290 (3)- SOX9

Achalasia-addisonianism-alacrimia syndrome, 231550 (3)- AAAS

Achondrogenesis, type II or hypochondrogenesis, 200610 (3)- COL2A1

Achondroplasia, 100800 (3)- FGFR3

Achromatopsia 2, 216900 (3)- CNGA3

Achromatopsia 3, 262300 (3)- CNGB3

Achromatopsia 4, 613856 (3)- GNAT2

Achromatopsia 6, 610024 (3)- PDE6H

Acid-labile subunit, deficiency of, 615961 (3)- IGFALS

Acrocallosal syndrome, 200990 (3)- KIF7

Acrodermatitis enteropathica, 201100 (3)- SLC39A4

Acrodysostosis 1, with or without hormone resistance, 101800 (3)- PRKAR1A

Acrokeratosis verruciformis, 101900 (3)- ATP2A2

Acromicric dysplasia, 102370 (3)- FBN1

ACTH-independent macronodular adrenal hyperplasia, 219080 (3)- GNAS

Acute myeloid leukemia, somatic, 601626 (3)- DNMT3A

Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)- ACADM

Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)- ACADS

Adams-Oliver syndrome 2, 614219 (3)- DOCK6

Adams-Oliver syndrome 5, 616028 (3)- NOTCH1

Adenine phosphoribosyltransferase deficiency, 614723 (3)- APRT

Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)- EGFR

Adenocarcinoma of lung, somatic, 211980 (3)- BRAF

Adenocarcinoma of lung, somatic, 211980 (3)- ERBB2

Adenocarcinoma of lung, somatic, 211980 (3)- PRKN

Adenocarcinoma, colonic, somatic (3)- RAD54L

Adenoma, periampullary, somatic (3)- APC

Adenomas, multiple colorectal, 608456 (3)- MUTYH

Adenomatous polyposis coli, 175100 (3)- APC

Adenosine deaminase deficiency, partial, 102700 (3)- ADA

Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)- PKLR

Adenylosuccinase deficiency, 103050 (3)- ADSL

Adrenal adenoma, somatic (3)- MEN1

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)- CYP11B1

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)- CYP21A2

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)- HSD3B2

Adrenal hypoplasia, congenital, 300200 (3)- NR0B1

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)- CYP11A1

Adrenocortical carcinoma, pediatric, 202300 (3)- TP53

Adrenocortical insufficiency, 612964 (3)- NR5A1

Adrenocortical tumor, somatic, (3)- PRKAR1A

Adrenocorticotropic hormone deficiency, 201400 (3)- TBX19

Adrenoleukodystrophy, 300100 (3)- ABCD1

Adrenomyeloneuropathy, adult, 300100 (3)- ABCD1

Adult i phenotype without cataract, 110800 (3)- GCNT2

Advanced sleep phase syndrome, familial, 1, 604348 (3)- PER2

Advanced sleep-phase syndrome, familial, 2, 615224 (3)- CSNK1D

Afibrinogenemia, congenital, 202400 (3)- FGA

Afibrinogenemia, congenital, 202400 (3)- FGB

Afibrinogenemia, congenital, 202400 (3)- FGG

Agammaglobulinemia 1, 601495 (3)- IGHM

Agammaglobulinemia, X-linked 1, 300755 (3)- BTK

Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)- SLC12A6

Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)- TREX1

Aicardi-Goutieres syndrome 2, 610181 (3)- RNASEH2B

Aicardi-Goutieres syndrome 3, 610329 (3)- RNASEH2C

Aicardi-Goutieres syndrome 4, 610333 (3)- RNASEH2A

Aicardi-Goutieres syndrome 5, 612952 (3)- SAMHD1

Aicardi-Goutieres syndrome 6, 615010 (3)- ADAR

AICA-ribosiduria due to ATIC deficiency, 608688 (3)- ATIC

AIDS, rapid progression to, 609423 (3)- IFNG

AIDS, resistance to, 609423 (3)- CXCL12

Alagille syndrome 1, 118450 (3)- JAG1

Alagille syndrome 2, 610205 (3)- NOTCH2

Aland Island eye disease, 300600 (3)- CACNA1F

Alazami syndrome, 615071 (3)- LARP7

Albinism, brown oculocutaneous, 203200 (3)- OCA2

Albinism, oculocutaneous, type IA, 203100 (3)- TYR

Albinism, oculocutaneous, type IB, 606952 (3)- TYR

Albinism, oculocutaneous, type II, 203200 (3)- OCA2

Albinism, oculocutaneous, type II, modifier of, 203200 (3)- MC1R

Alcohol dependence, susceptibility to, 103780 (3)- HTR2A

Alcohol sensitivity, acute, 610251 (3)- ALDH2

Aldosterone to renin ratio raised (3)- CYP11B2

Aldosteronism, glucocorticoid-remediable, 103900 (3)- CYP11B1

Alexander disease, 203450 (3)- GFAP

Alkaptonuria, 203500 (3)- HGD

Allan-Herndon-Dudley syndrome, 300523 (3)- SLC16A2

Alopecia universalis, 203655 (3)- HR

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)- RAG1

Alpha-1-antichymotrypsin deficiency (3)- SERPINA3

Alpha-2-macroglobulin deficiency, 614036 (1)- A2M

Alpha-methylacetoacetic aciduria, 203750 (3)- ACAT1

Alpha-methylacyl-CoA racemase deficiency, 614307 (3)- AMACR

Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)- ATRX

Alpha-thalassemia/mental retardation syndrome, 301040 (3)- ATRX

Alport syndrome 1, X-linked, 301050 (3)- COL4A5

Alport syndrome 2, autosomal recessive, 203780 (3)- COL4A3

Alport syndrome 3, autosomal dominant, 104200 (3)- COL4A3

Alstrom syndrome, 203800 (3)- ALMS1

Alternating hemiplegia of childhood 1, 104290 (3)- ATP1A2

Alternating hemiplegia of childhood 2, 614820 (3)- ATP1A3

Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)- FOXF1

Alzheimer disease 1, familial, 104300 (3)- APP

Alzheimer disease, late-onset, susceptibility to, 104300 (3)- NOS3

Alzheimer disease, late-onset, susceptibility to, 104300 (3)- PLAU

Alzheimer disease, susceptibility to, 104300 (3)- A2M

Alzheimer disease, susceptibility to, 104300 (3)- HFE

Alzheimer disease, type 3, 607822 (3)- PSEN1

Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)- PSEN1

Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)- PSEN1

Alzheimer disease-2, 104310 (3)- APOE

Alzheimer disease-4, 606889 (3)- PSEN2

Amelogenesis imperfecta, type IA, 104530 (3)- LAMB3

Aminoacylase 1 deficiency, 609924 (3)- ACY1

AMP deaminase deficiency, erythrocytic, 612874 (3)- AMPD3

Amyloidosis, 3 or more types, 105200 (3)- APOA1

Amyloidosis, familial visceral, 105200 (3)- FGA

Amyloidosis, Finnish type, 105120 (3)- GSN

Amyloidosis, hereditary, transthyretin-related, 105210 (3)- TTR

Amyotrophic lateral sclerosis 1, 105400 (3)- SOD1

Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)- TARDBP

Amyotrophic lateral sclerosis 11, 612577 (3)- FIG4

Amyotrophic lateral sclerosis 12, 613435 (3)- OPTN

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)- VCP

Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)- UBQLN2

Amyotrophic lateral sclerosis 17, 614696 (3)- CHMP2B

Amyotrophic lateral sclerosis 18, 614808 (3)- PFN1

Amyotrophic lateral sclerosis 19, 615515 (3)- ERBB4

Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)- ALS2

Amyotrophic lateral sclerosis 21, 606070 (3)- MATR3

Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)- SETX

Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)- SPG11

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)- FUS

Amyotrophic lateral sclerosis 8, 608627 (3)- VAPB

Amyotrophic lateral sclerosis 9, 611895 (3)- ANG

Amyotrophic lateral sclerosis, susceptibility to, 105400 (3)- DCTN1

Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 (3)- ATXN2

Amyotrophic lateral sclerosis, susceptibility to, 25, 617921 (3)- KIF5A

Analbuminemia, 616000 (3)- ALB

Analgesia from kappa-opioid receptor agonist, female-specific, 613098 (3)- MC1R

Anauxetic dysplasia 1, 607095 (3)- RMRP

Andersen syndrome, 170390 (3)- KCNJ2

Androgen insensitivity, 300068 (3)- AR

Androgen insensitivity, partial, with or without breast cancer, 312300 (3)- AR

Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)- NT5C3A

Anemia, hemolytic, Rh-null, regulator type, 268150 (3)- RHAG

Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)- SLC11A2

Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)- SPTB

Anemia, sideroblastic, 1, 300751 (3)- ALAS2

Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)- SLC25A38

Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)- GLRX5

Anemia, sideroblastic, with ataxia, 301310 (3)- ABCB7

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3)- GATA1

Angelman syndrome, 105830 (3)- UBE3A

Angioedema, hereditary, type III, 610618 (3)- F12

Angiofibroma, somatic (3)- MEN1

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)- COL4A1

Angiotensin I-converting enzyme, benign serum increase (3)- ACE

Aniridia, 106210 (3)- PAX6

Anorexia nervosa, susceptibility to, 606788 (3)- HTR2A

Anterior segment anomalies with or without cataract, 602588 (3)- EYA1

Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)- PITX3

Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)- FOXE3

Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)- FOXC1

Anterior segment dysgenesis 4, 137600 (3)- PITX2

Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)- PAX6

Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)- CYP1B1

Antisocial behavior, 300615 (3)- MAOA

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)- POR

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)- FGFR2

Aortic aneurysm, familial thoracic 11, susceptibility to, 617349 (3)- FOXE3

Aortic aneurysm, familial thoracic 4, 132900 (3)- MYH11

Aortic aneurysm, familial thoracic 6, 611788 (3)- ACTA2

Aortic aneurysm, familial thoracic 7, 613780 (3)- MYLK

Aortic aneurysm, familial thoracic 8, 615436 (3)- PRKG1

Aortic valve disease 1, 109730 (3)- NOTCH1

Aortic valve disease 2, 614823 (3)- SMAD6

Apert syndrome, 101200 (3)- FGFR2

Aphasia, primary progressive, 607485 (3)- GRN

Aplasia of lacrimal and salivary glands, 180920 (3)- FGF10

Aplastic anemia, 609135 (3)- NBN

Aplastic anemia, 609135 (3)- PRF1

Aplastic anemia, 609135 (3)- IFNG

Aplastic anemia, 614743 (3)- TERC

Aplastic anemia, susceptibility to, 609135 (3)- SBDS

Apnea, postanesthetic, susceptibility to, due to BCHE deficiency, 617936 (3)- BCHE

ApoA-I and apoC-III deficiency, combined (3)- APOA1

Apolipoprotein A-II deficiency (3)- APOA2

Apolipoprotein C-III deficiency, 614028 (3)- APOC3

Apparent mineralocorticoid excess, 218030 (3)- HSD11B2

Argininemia, 207800 (3)- ARG1

Argininosuccinic aciduria, 207900 (3)- ASL

Aromatase deficiency, 613546 (3)- CYP19A1

Aromatase excess syndrome, 139300 (3)- CYP19A1

Aromatic L-amino acid decarboxylase deficiency, 608643 (3)- DDC

Arrhythmogenic right ventricular dysplasia 1, 107970 (3)- TGFB3

Arrhythmogenic right ventricular dysplasia 10, 610193 (3)- DSG2

Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)- DSC2

Arrhythmogenic right ventricular dysplasia 11, 610476 (3)- DSC2

Arrhythmogenic right ventricular dysplasia 12, 611528 (3)- JUP

Arrhythmogenic right ventricular dysplasia 2, 600996 (3)- RYR2

Arrhythmogenic right ventricular dysplasia 5, 604400 (3)- TMEM43

Arrhythmogenic right ventricular dysplasia 8, 607450 (3)- DSP

Arrhythmogenic right ventricular dysplasia 9, 609040 (3)- PKP2

Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)- CTNNA3

Arterial calcification, generalized, of infancy, 1, 208000 (3)- ENPP1

Arterial calcification, generalized, of infancy, 2, 614473 (3)- ABCC6

Arterial tortuosity syndrome, 208050 (3)- SLC2A10

Arteriovenous malformation of the brain, somatic, 108010 (3)- KRAS

Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)- PPP3CA

Arthrogryposis, distal, type 1A, 108120 (3)- TPM2

Arthrogryposis, distal, type 1B, 614335 (3)- MYBPC1

Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3)- MYH3

Arthrogryposis, distal, type 2B1, 601680 (3)- TNNI2

Arthrogryposis, distal, type 2B2, 618435 (3)- TNNT3

Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3)- MYH3

Arthrogryposis, distal, type 2B4, 108120 (3)- TPM2

Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)- VPS33B

Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)- VIPAS39

Arts syndrome, 301835 (3)- PRPS1

Asparagine synthetase deficiency, 615574 (3)- ASNS

Aspartylglucosaminuria, 208400 (3)- AGA

Asperger syndrome susceptibility, X-linked 1, 300494 (3)- NLGN3

Asthma, susceptibility to, 600807 (3)- PLA2G7

Asthma, susceptibility to, 600807 (3)- TNF

Ataxia with isolated vitamin E deficiency, 277460 (3)- TTPA

Ataxia, cerebellar, Cayman type, 601238 (3)- ATCAY

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)- APTX

Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)- FLVCR1

Ataxia, sensory, 1, autosomal dominant, 608984 (3)- RNF170

Ataxia-oculomotor apraxia 3, 615217 (3)- PIK3R5

Ataxia-oculomotor apraxia 4, 616267 (3)- PNKP

Ataxia-telangiectasia, 208900 (3)- ATM

Athabaskan brainstem dysgenesis syndrome, 601536 (3)- HOXA1

Atherosclerosis, susceptibility to (3)- ESR1

Atopy, susceptibility to, 147050 (3)- PLA2G7

Atransferrinemia, 209300 (3)- TF

Atrial fibrillation, familial, 10, 614022 (3)- SCN5A

Atrial fibrillation, familial, 11, 614049 (3)- GJA5

Atrial fibrillation, familial, 12, 614050 (3)- ABCC9

Atrial fibrillation, familial, 13, 615377 (3)- SCN1B

Atrial fibrillation, familial, 14, 615378 (3)- SCN2B

Atrial fibrillation, familial, 16, 613120 (3)- SCN3B

Atrial fibrillation, familial, 17, 611819 (3)- SCN4B

Atrial fibrillation, familial, 3, 607554 (3)- KCNQ1

Atrial fibrillation, familial, 4, 611493 (3)- KCNE2

Atrial fibrillation, familial, 6, 612201 (3)- NPPA

Atrial fibrillation, familial, 7, 612240 (3)- KCNA5

Atrial fibrillation, familial, 9, 613980 (3)- KCNJ2

Atrial septal defect 2, 607941 (3)- GATA4

Atrial septal defect 3, 614089 (3)- MYH6

Atrial septal defect 4, 611363 (3)- TBX20

Atrial septal defect 5, 612794 (3)- ACTC1

Atrial septal defect 6, 613087 (3)- TLL1

Atrial septal defect 7, with or without AV conduction defects, 108900 (3)- NKX2-5

Atrial septal defect 8, 614433 (3)- CITED2

Atrial septal defect 9, 614475 (3)- GATA6

Atrial standstill 2, 615745 (3)- NPPA

Atrial standstill, digenic (GJA5/SCN5A), 108770 (3)- GJA5

Atrichia with papular lesions, 209500 (3)- HR

Atrioventricular septal defect 3, 600309 (3)- GJA1

Atrioventricular septal defect 4, 614430 (3)- GATA4

Atrioventricular septal defect 5, 614474 (3)- GATA6

Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)- CRELD1

Atrioventricular septal defect, susceptibility to, 2, 606217 (3)- CRELD1

Attention deficit-hyperactivity disorder, 143465 (3)- DRD4

Attention deficit-hyperactivity disorder, susceptibility to, 143465 (3)- DRD5

Attention deficit-hyperactivity disorder, susceptibility to, 7, 613003 (3)- TPH2

Auditory neuropathy, autosomal recessive, 1, 601071 (3)- OTOF

Auriculocondylar syndrome 3, 615706 (3)- EDN1

Autism susceptibility 15, 612100 (3)- CNTNAP2

Autism susceptibility 17, 613436 (3)- SHANK2

Autism susceptibility, X-linked 1, 300425 (3)- NLGN3

Autism susceptibility, X-linked 3, 300496 (3)- MECP2

Autism, susceptibility to, 18, 615032 (3)- CHD8

Autism, susceptibility to, X-linked 4, 300830 (3)- PTCHD1

Autism, susceptibility to, X-linked 5, 300847 (3)- RPL10

Autism, susceptibility to, X-linked 6, 300872 (3)- TMLHE

Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3)- STAT3

Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)- ZAP70

Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)- ITCH

Autoimmune lymphoproliferative syndrome, 601859 (3)- FAS

Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)- FAS

Autoimmune lymphoproliferative syndrome, type IB, 601859 (3)- FASLG

Autoimmune lymphoproliferative syndrome, type V, 616100 (3)- CTLA4

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)- AIRE

Autoimmune thyroid disease, susceptibility to, 3, 608175 (3)- TG

Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)- PLCG2

Autonomic nervous system dysfunction (3)- DRD4

Avascular necrosis of the femoral head, 608805 (3)- COL2A1

Axenfeld-Rieger syndrome, type 1, 180500 (3)- PITX2

Axenfeld-Rieger syndrome, type 3, 602482 (3)- FOXC1

Axillary odor, variation in, 117800 (3)- ABCC11

Ayme-Gripp syndrome, 601088 (3)- MAF

B

Bainbridge-Ropers syndrome, 615485 (3)- ASXL3

Baller-Gerold syndrome, 218600 (3)- RECQL4

Bamforth-Lazarus syndrome, 241850 (3)- FOXE1

Baraitser-Winter syndrome 1, 243310 (3)- ACTB

Baraitser-Winter syndrome 2, 614583 (3)- ACTG1

Bardet-Biedl syndrome 1, 209900 (3)- BBS1

Bardet-Biedl syndrome 1, modifier of, 209900 (3)- ARL6

Bardet-Biedl syndrome 10, 615987 (3)- BBS10

Bardet-Biedl syndrome 12, 615989 (3)- BBS12

Bardet-Biedl syndrome 13, 615990 (3)- MKS1

Bardet-Biedl syndrome 14, modifier of, 615991 (3)- TMEM67

Bardet-Biedl syndrome 16, 615993 (3)- SDCCAG8

Bardet-Biedl syndrome 17, 615994 (3)- LZTFL1

Bardet-Biedl syndrome 2, 615981 (3)- BBS2

Bardet-Biedl syndrome 21, 617406 (3)- C8orf37

Bardet-Biedl syndrome 3, 600151 (3)- ARL6

Bardet-Biedl syndrome 4, 615982 (3)- BBS4

Bardet-Biedl syndrome 5, 615983 (3)- BBS5

Bardet-Biedl syndrome 6, 605231 (3)- MKKS

Bardet-Biedl syndrome 7, 615984 (3)- BBS7

Bardet-Biedl syndrome 8, 615985 (3)- TTC8

Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)- TAP2

Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)- CIITA

Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)- RFX5

Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)- RFXAP

Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)- RFX5

Barrett esophagus/esophageal adenocarcinoma, 614266 (3)- ASCC1

Barrett esophagus/esophageal adenocarcinoma, 614266 (3)- CTHRC1

Barrett esophagus/esophageal adenocarcinoma, 614266 (3)- MSR1

Barth syndrome, 302060 (3)- TAZ

Bart-Pumphrey syndrome, 149200 (3)- GJB2

Bartter syndrome, type 1, 601678 (3)- SLC12A1

Bartter syndrome, type 2, 241200 (3)- KCNJ1

Bartter syndrome, type 3, 607364 (3)- CLCNKB

Bartter syndrome, type 4b, digenic, 613090 (3)- CLCNKA

Bartter syndrome, type 4b, digenic, 613090 (3)- CLCNKB

Basal cell carcinoma 7, 614740 (3)- TP53

Basal cell carcinoma, somatic, 605462 (3)- PTCH1

Basal cell carcinoma, somatic, 605462 (3)- PTCH2

Basal cell carcinoma, somatic, 605462 (3)- RASA1

Basal cell nevus syndrome, 109400 (3)- PTCH1

Basal cell nevus syndrome, 109400 (3)- PTCH2

Basal cell nevus syndrome, 109400 (3)- SUFU

Basal ganglia calcification, idiopathic, 1, 213600 (3)- SLC20A2

Basal ganglia calcification, idiopathic, 4, 615007 (3)- PDGFRB

Basal laminar drusen, 126700 (3)- CFH

Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)- MED25

Beare-Stevenson cutis gyrata syndrome, 123790 (3)- FGFR2

Becker muscular dystrophy, 300376 (3)- DMD

Beckwith-Wiedemann syndrome, 130650 (3)- CDKN1C

Behr syndrome, 210000 (3)- OPA1

Bent bone dysplasia syndrome, 614592 (3)- FGFR2

Benzene toxicity, susceptibility to (3)- NQO1

Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)- GP1BA

Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)- GP1BA

Bernard-Soulier syndrome, type B, 231200 (3)- GP1BB

Bernard-Soulier syndrome, type C, 231200 (3)- GP9

Beryllium disease, chronic, susceptibility to (3)- HLA-DPB1

Bestrophinopathy, autosomal recessive, 611809 (3)- BEST1

Beta-ureidopropionase deficiency, 613161 (3)- UPB1

Bethlem myopathy 1, 158810 (3)- COL6A1

Bethlem myopathy 1, 158810 (3)- COL6A2

Bethlem myopathy 1, 158810 (3)- COL6A3

Bietti crystalline corneoretinal dystrophy, 210370 (3)- CYP4V2

Bile acid malabsorption, primary, 613291 (3)- SLC10A2

Bile acid synthesis defect, congenital, 1, 607765 (3)- HSD3B7

Bile acid synthesis defect, congenital, 2, 235555 (3)- AKR1D1

Bile acid synthesis defect, congenital, 3, 613812 (3)- CYP7B1

Bile acid synthesis defect, congenital, 4, 214950 (3)- AMACR

Bile acid synthesis defect, congenital, 6, 617308 (3)- ACOX2

Bilirubin, serum level of, QTL1, 601816 (3)- UGT1A1

Biotinidase deficiency, 253260 (3)- BTD

Birt-Hogg-Dube syndrome, 135150 (3)- FLCN

Bjornstad syndrome, 262000 (3)- BCS1L

Bladder cancer, somatic, 109800 (3)- FGFR3

Bladder cancer, somatic, 109800 (3)- HRAS

Bladder cancer, somatic, 109800 (3)- KRAS

Bladder cancer, somatic, 109800 (3)- RB1

Bleeding disorder, platelet-type, 11, 614201 (3)- GP6

Bleeding disorder, platelet-type, 13, susceptibility to, 614009 (3)- TBXA2R

Bleeding disorder, platelet-type, 15, 615193 (3)- ACTN1

Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)- ITGA2B

Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)- ITGB3

Bleeding disorder, platelet-type, 17, 187900 (3)- GFI1B

Bleeding disorder, platelet-type, 8, 609821 (3)- P2RY12

Blepharocheilodontic syndrome 1, 119580 (3)- CDH1

Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)- FOXL2

Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)- FOXL2

Blepharospasm, primary benign, 606798 (3)- DRD5

Blood group, Diego, 110500 (3)- SLC4A1

Blood group, Froese, 601551 (3)- SLC4A1

Blood group, Ii, 110800 (3)- GCNT2

Blood group, Knops system, 607486 (3)- CR1

Blood group, Langereis system, 111600 (3)- ABCB6

Blood group, MNSs system, 111300 (3)- GYPA

Blood group, Rhesus (3)- RHCE

Blood group, Ss, 111740 (3)- GYPB

Blood group, Swann, 601550 (3)- SLC4A1

Blood group, Waldner, 112010 (3)- SLC4A1

Blood group, Wright, 112050 (3)- SLC4A1

Blood group--Lutheran inhibitor, 111150 (3)- KLF1

Blue cone monochromacy, 303700 (3)- OPN1LW

Blue cone monochromacy, 303700 (3)- OPN1MW

Bohring-Opitz syndrome, 605039 (3)- ASXL1

Bombay phenotype, digenic, 616754 (3)- FUT2

Bone marrow failure syndrome 1, 614675 (3)- SRP72

Bone marrow failure syndrome 5, 618165 (3)- TP53

Bone mineral density variability 1, 601884 (3)- LRP5

Bone mineral density variation QTL, osteoporosis, 166710 (3)- COL1A1

Borjeson-Forssman-Lehmann syndrome, 301900 (3)- PHF6

Bosley-Salih-Alorainy syndrome, 601536 (3)- HOXA1

Bosma arhinia microphthalmia syndrome, 603457 (3)- SMCHD1

Bothnia retinal dystrophy, 607475 (3)- RLBP1

Boucher-Neuhauser syndrome, 215470 (3)- PNPLA6

Brachydactyly, type A1, C, 615072 (3)- GDF5

Brachydactyly, type A2, 112600 (3)- GDF5

Brachydactyly, type B1, 113000 (3)- ROR2

Brachydactyly, type B2, 611377 (3)- NOG

Brachydactyly, type C, 113100 (3)- GDF5

Brachyolmia type 3, 113500 (3)- TRPV4

Bradyopsia, 608415 (3)- RGS9

Bradyopsia, 608415 (3)- RGS9BP

Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3)- CSF1R

Brain small vessel disease 2, 614483 (3)- COL4A2

Brain small vessel disease with or without ocular anomalies, 175780 (3)- COL4A1

Brain tumor-polyposis syndrome 2, 175100 (3)- APC

Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)- BCKDK

Branchiootic syndrome 1, 602588 (3)- EYA1

Branchiootic syndrome 3, 608389 (3)- SIX1

Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)- EYA1

Branchiootorenal syndrome 2, 610896 (3)- SIX5

Breast and colorectal cancer, susceptibility to (3)- CHEK2

Breast cancer, early-onset, susceptibility to, 114480 (3)- BRIP1

Breast cancer, invasive ductal, 114480 (3)- RAD54L

Breast cancer, lobular, 114480 (3)- CDH1

Breast cancer, male, susceptibility to, 114480 (3)- BRCA2

Breast cancer, poor survival after chemotherapy for (3)- NQO1

Breast cancer, somatic, 114480 (3)- AKT1

Breast cancer, somatic, 114480 (3)- ESR1

Breast cancer, somatic, 114480 (3)- KRAS

Breast cancer, somatic, 114480 (3)- PIK3CA

Breast cancer, somatic, 114480 (3)- PPM1D

Breast cancer, somatic, 114480 (3)- TP53

Breast cancer, susceptibility to, 114480 (3)- ATM

Breast cancer, susceptibility to, 114480 (3)- BARD1

Breast cancer, susceptibility to, 114480 (3)- CHEK2

Breast cancer, susceptibility to, 114480 (3)- PALB2

Breast-ovarian cancer, familial, 1, 604370 (3)- BRCA1

Breast-ovarian cancer, familial, 2, 612555 (3)- BRCA2

Breast-ovarian cancer, familial, susceptibility to, 3, 613399 (3)- RAD51C

Breast-ovarian cancer, familial, susceptibility to, 4, 614291 (3)- RAD51D

Brittle cornea syndrome 1, 229200 (3)- ZNF469

Brittle cornea syndrome 2, 614170 (3)- PRDM5

Brody myopathy, 601003 (3)- ATP2A1

Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)- SCNN1B

Bronchiectasis with or without elevated sweat chloride 1, modifier of, 211400 (3)- CFTR

Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)- SCNN1A

Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)- SCNN1G

Brooke-Spiegler syndrome, 605041 (3)- CYLD

Brown-Vialetto-Van Laere syndrome 1, 211530 (3)- SLC52A3

Brown-Vialetto-Van Laere syndrome 2, 614707 (3)- SLC52A2

Bruck syndrome 1, 259450 (3)- FKBP10

Bruck syndrome 2, 609220 (3)- PLOD2

Brugada syndrome 1, 601144 (3)- SCN5A

Brugada syndrome 2, 611777 (3)- GPD1L

Brugada syndrome 3, 611875 (3)- CACNA1C

Brugada syndrome 4, 611876 (3)- CACNB2

Brugada syndrome 5, 612838 (3)- SCN1B

Brugada syndrome 7, 613120 (3)- SCN3B

Brugada syndrome 8, 613123 (3)- HCN4

Brugada syndrome 9, 616399 (3)- KCND3

Brunner syndrome, 300615 (3)- MAOA

Budd-Chiari syndrome, 600880 (3)- F5

Budd-Chiari syndrome, somatic, 600880 (3)- JAK2

Burkitt lymphoma, somatic, 113970 (3)- MYC

Butyrylcholinesterase deficiency, 617936 (3)- BCHE

C

C syndrome, 211750 (3)- CD96

C3 deficiency, 613779 (3)- C3

Caffey disease, 114000 (3)- COL1A1

Campomelic dysplasia with autosomal sex reversal, 114290 (3)- SOX9

Campomelic dysplasia, 114290 (3)- SOX9

Canavan disease, 271900 (3)- ASPA

Cancer progression/metastasis (3)- FGFR4

CAP myopathy 1, 609284 (3)- TPM3

CAP myopathy 2, 609285 (3)- TPM2

Capillary malformation-arteriovenous malformation 1, 608354 (3)- RASA1

Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3)- GNAQ

CAPOS syndrome, 601338 (3)- ATP1A3

CARASIL syndrome, 600142 (3)- HTRA1

Carbamoylphosphate synthetase I deficiency, 237300 (3)- CPS1

Carboxypeptidase N deficiency, 212070 (3)- CPN1

Carcinoid tumor of lung (3)- MEN1

Cardiac arrhythmia, ankyrin-B-related, 600919 (3)- ANK2

Cardiac conduction defect, nonspecific, 612838 (3)- SCN1B

Cardiac conduction defect, susceptibility to, 115080 (3)- AKAP10

Cardiac valvular dysplasia, X-linked, 314400 (3)- FLNA

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)- SCO2

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)- COX15

Cardiofaciocutaneous syndrome 2, 615278 (3)- KRAS

Cardiofaciocutaneous syndrome 3, 615279 (3)- MAP2K1

Cardiofaciocutaneous syndrome 4, 615280 (3)- MAP2K2

Cardiofaciocutaneous syndrome, 115150 (3)- BRAF

Cardiomyopathy, dilated, 1A, 115200 (3)- LMNA

Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)- ACTN2

Cardiomyopathy, dilated, 1BB, 612877 (3)- DSG2

Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)- LDB3

Cardiomyopathy, dilated, 1CC, 613122 (3)- NEXN

Cardiomyopathy, dilated, 1D, 601494 (3)- TNNT2

Cardiomyopathy, dilated, 1DD, 613172 (3)- RBM20

Cardiomyopathy, dilated, 1E, 601154 (3)- SCN5A

Cardiomyopathy, dilated, 1EE, 613252 (3)- MYH6

Cardiomyopathy, dilated, 1FF, 613286 (3)- TNNI3

Cardiomyopathy, dilated, 1G, 604145 (3)- TTN

Cardiomyopathy, dilated, 1GG, 613642 (3)- SDHA

Cardiomyopathy, dilated, 1HH, 613881 (3)- BAG3

Cardiomyopathy, dilated, 1I, 604765 (3)- DES

Cardiomyopathy, dilated, 1II, 615184 (3)- CRYAB

Cardiomyopathy, dilated, 1JJ, 615235 (3)- LAMA4

Cardiomyopathy, dilated, 1KK, 615248 (3)- MYPN

Cardiomyopathy, dilated, 1L, 606685 (3)- SGCD

Cardiomyopathy, dilated, 1MM, 615396 (3)- MYBPC3

Cardiomyopathy, dilated, 1NN, 615916 (3)- RAF1

Cardiomyopathy, dilated, 1O, 608569 (3)- ABCC9

Cardiomyopathy, dilated, 1P, 609909 (3)- PLN

Cardiomyopathy, dilated, 1R, 613424 (3)- ACTC1

Cardiomyopathy, dilated, 1S, 613426 (3)- MYH7

Cardiomyopathy, dilated, 1U, 613694 (3)- PSEN1

Cardiomyopathy, dilated, 1V, 613697 (3)- PSEN2

Cardiomyopathy, dilated, 1W, 611407 (3)- VCL

Cardiomyopathy, dilated, 1X, 611615 (3)- FKTN

Cardiomyopathy, dilated, 1Y, 611878 (3)- TPM1

Cardiomyopathy, dilated, 1Z, 611879 (3)- TNNC1

Cardiomyopathy, dilated, 3B, 302045 (3)- DMD

Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)- DSP

Cardiomyopathy, familial hypertrophic, 192600 (3)- CAV3

Cardiomyopathy, familial hypertrophic, 26 (3)- FLNC

Cardiomyopathy, familial hypertrophic, 9, 613765 (3)- TTN

Cardiomyopathy, familial restrictive 5, 617047 (3)- FLNC

Cardiomyopathy, familial restrictive, 1, 115210 (3)- TNNI3

Cardiomyopathy, familial restrictive, 3, 612422 (3)- TNNT2

Cardiomyopathy, familial restrictive, 4, 615248 (3)- MYPN

Cardiomyopathy, hypertrophic 6, 600858 (3)- PRKAG2

Cardiomyopathy, hypertrophic, 1, 192600 (3)- MYH7

Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)- MYLK2

Cardiomyopathy, hypertrophic, 10, 608758 (3)- MYL2

Cardiomyopathy, hypertrophic, 11, 612098 (3)- ACTC1

Cardiomyopathy, hypertrophic, 12, 612124 (3)- CSRP3

Cardiomyopathy, hypertrophic, 13, 613243 (3)- TNNC1

Cardiomyopathy, hypertrophic, 14, 613251 (3)- MYH6

Cardiomyopathy, hypertrophic, 15, 613255 (3)- VCL

Cardiomyopathy, hypertrophic, 16, 613838 (3)- MYOZ2

Cardiomyopathy, hypertrophic, 17, 613873 (3)- JPH2

Cardiomyopathy, hypertrophic, 18, 613874 (3)- PLN

Cardiomyopathy, hypertrophic, 2, 115195 (3)- TNNT2

Cardiomyopathy, hypertrophic, 20, 613876 (3)- NEXN

Cardiomyopathy, hypertrophic, 22, 615248 (3)- MYPN

Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)- ACTN2

Cardiomyopathy, hypertrophic, 24, 601493 (3)- LDB3

Cardiomyopathy, hypertrophic, 25, 607487 (3)- TCAP

Cardiomyopathy, hypertrophic, 3, 115196 (3)- TPM1

Cardiomyopathy, hypertrophic, 4, 115197 (3)- MYBPC3

Cardiomyopathy, hypertrophic, 7, 613690 (3)- TNNI3

Cardiomyopathy, hypertrophic, 8, 608751 (3)- MYL3

Carney complex variant, 608837 (3)- MYH8

Carney complex, type 1, 160980 (3)- PRKAR1A

Carnitine deficiency, systemic primary, 212140 (3)- SLC22A5

Carnitine-acylcarnitine translocase deficiency, 212138 (3)- SLC25A20

Carotid intimal medial thickness 1, 609338 (3)- PPARG

Carpal tunnel syndrome, familial, 115430 (3)- TTR

Cartilage-hair hypoplasia, 250250 (3)- RMRP

Cataract 1, multiple types, 116200 (3)- GJA8

Cataract 10, multiple types, 600881 (3)- CRYBA1

Cataract 11, multiple types, 610623 (3)- PITX3

Cataract 11, syndromic, autosomal recessive, 610623 (3)- PITX3

Cataract 12, multiple types, 611597 (3)- BFSP2

Cataract 13 with adult i phenotype, 116700 (3)- GCNT2

Cataract 14, multiple types, 601885 (3)- GJA3

Cataract 15, multiple types, 615274 (3)- MIP

Cataract 16, multiple types, 613763 (3)- CRYAB

Cataract 17, multiple types, 611544 (3)- CRYBB1

Cataract 18, autosomal recessive, 610019 (3)- FYCO1

Cataract 19, multiple types, 615277 (3)- LIM2

Cataract 2, multiple types, 604307 (3)- CRYGC

Cataract 20, multiple types, 116100 (3)- CRYGS

Cataract 21, multiple types, 610202 (3)- MAF

Cataract 22, 609741 (3)- CRYBB3

Cataract 23, 610425 (3)- CRYBA4

Cataract 3, multiple types, 601547 (3)- CRYBB2

Cataract 30, pulverulent, 116300 (3)- VIM

Cataract 31, multiple types, 605387 (3)- CHMP4B

Cataract 33, multiple types, 611391 (3)- BFSP1

Cataract 34, multiple types, 612968 (3)- FOXE3

Cataract 36, 613887 (3)- TDRD7

Cataract 38, autosomal recessive, 614691 (3)- AGK

Cataract 39, multiple types, autosomal dominant, 615188 (3)- CRYGB

Cataract 4, multiple types, 115700 (3)- CRYGD

Cataract 40, X-linked, 302200 (3)- NHS

Cataract 47, juvenile, with microcornea, 612018 (3)- SLC16A12

Cataract 5, multiple types, 116800 (3)- HSF4

Cataract 6, multiple types, 116600 (3)- EPHA2

Cataract 9, multiple types, 604219 (3)- CRYAA

Cataract with late-onset corneal dystrophy, 106210 (3)- PAX6

CATSHL syndrome, 610474 (3)- FGFR3

Caudal regression syndrome, 600145 (3)- VANGL1

Celiac disease, susceptibility to, 212750 (3)- HLA-DQA1

Celiac disease, susceptibility to, 212750 (3)- HLA-DQB1

Celiac disease, susceptibility to, 3, 609755 (3)- CTLA4

Celiac disease, susceptibility to, 4, 609753 (3)- MYO9B

Cenani-Lenz syndactyly syndrome, 212780 (3)- LRP4

Central core disease, 117000 (3)- RYR1

Central hypoventilation syndrome, 209880 (3)- GDNF

Central hypoventilation syndrome, congenital, 209880 (3)- ASCL1

Central hypoventilation syndrome, congenital, 209880 (3)- EDN3

Central hypoventilation syndrome, congenital, 209880 (3)- RET

Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)- PHOX2B

Centronuclear myopathy 1, 160150 (3)- DNM2

Centronuclear myopathy 2, 255200 (3)- BIN1

Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)- CA8

Cerebellar ataxia, 604290 (3)- CP

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)- DNMT1

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)- WDR81

Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)- CAMTA1

Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)- EMC1

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)- VLDLR

Cerebral amyloid angiopathy, 105150 (3)- CST3

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)- APP

Cerebral amyloid angiopathy, PRNP-related, 137440 (3)- PRNP

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)- NOTCH3

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)- HTRA1

Cerebral cavernous malformations 3, 603285 (3)- PDCD10

Cerebral creatine deficiency syndrome 1, 300352 (3)- SLC6A8

Cerebral creatine deficiency syndrome 2, 612736 (3)- GAMT

Cerebral creatine deficiency syndrome 3, 612718 (3)- GATM

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)- SNAP29

Cerebral infarction, susceptibility to, 601367 (3)- PRKCH

Cerebral palsy, spastic quadriplegic, 2, 612900 (3)- KANK1

Cerebrooculofacioskeletal syndrome 3, 616570 (3)- ERCC5

Cerebrooculofacioskeletal syndrome 4, 610758 (3)- ERCC1

Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)- CTC1

Cerebrotendinous xanthomatosis, 213700 (3)- CYP27A1

Cerebrovascular disease, occlusive (3)- SERPINA3

Ceroid lipofuscinosis, neuronal, 1, 256730 (3)- PPT1

Ceroid lipofuscinosis, neuronal, 10, 610127 (3)- CTSD

Ceroid lipofuscinosis, neuronal, 11, 614706 (3)- GRN

Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)- CTSF

Ceroid lipofuscinosis, neuronal, 2, 204500 (3)- TPP1

Ceroid lipofuscinosis, neuronal, 3, 204200 (3)- CLN3

Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)- DNAJC5

Ceroid lipofuscinosis, neuronal, 5, 256731 (3)- CLN5

Ceroid lipofuscinosis, neuronal, 6, 601780 (3)- CLN6

Ceroid lipofuscinosis, neuronal, 7, 610951 (3)- MFSD8

Ceroid lipofuscinosis, neuronal, 8, 600143 (3)- CLN8

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3)- CLN8

Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3)- CLN6

Cervical cancer, somatic, 603956 (3)- FGFR3

Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)- DNM2

Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)- DYNC1H1

Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)- MFN2

Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)- MFN2

Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 (3)- MPV17

Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)- HSPB1

Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)- GDAP1

Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)- HSPB8

Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)- AARS

Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)- LRSAM1

Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)- IGHMBP2

Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)- HARS

Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)- SPG11

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)- GDAP1

Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)- DNM2

Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)- YARS

Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)- MPZ

Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)- INF2

Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)- GNB4

Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3)- NEFL

Charcot-Marie-Tooth disease, foot deformity of, 192950 (3)- HOXD10

Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)- PLEKHG5

Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)- GDAP1

Charcot-Marie-Tooth disease, type 1A, 118220 (3)- PMP22

Charcot-Marie-Tooth disease, type 1B, 118200 (3)- MPZ

Charcot-Marie-Tooth disease, type 1C, 601098 (3)- LITAF

Charcot-Marie-Tooth disease, type 1D, 607678 (3)- EGR2

Charcot-Marie-Tooth disease, type 1E, 118300 (3)- PMP22

Charcot-Marie-Tooth disease, type 1F, 607734 (3)- NEFL

Charcot-Marie-Tooth disease, type 2B1, 605588 (3)- LMNA

Charcot-Marie-Tooth disease, type 2D, 601472 (3)- GARS

Charcot-Marie-Tooth disease, type 2E, 607684 (3)- NEFL

Charcot-Marie-Tooth disease, type 2I, 607677 (3)- MPZ

Charcot-Marie-Tooth disease, type 2J, 607736 (3)- MPZ

Charcot-Marie-Tooth disease, type 2Y, 616687 (3)- VCP

Charcot-Marie-Tooth disease, type 4A, 214400 (3)- GDAP1

Charcot-Marie-Tooth disease, type 4B1, 601382 (3)- MTMR2

Charcot-Marie-Tooth disease, type 4B2, 604563 (3)- SBF2

Charcot-Marie-Tooth disease, type 4C, 601596 (3)- SH3TC2

Charcot-Marie-Tooth disease, type 4D, 601455 (3)- NDRG1

Charcot-Marie-Tooth disease, type 4F, 614895 (3)- PRX

Charcot-Marie-Tooth disease, type 4H, 609311 (3)- FGD4

Charcot-Marie-Tooth disease, type 4J, 611228 (3)- FIG4

Charcot-Marie-Tooth disease, type 4K, 616684 (3)- SURF1

Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)- PRPS1

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)- GJB1

CHARGE syndrome, 214800 (3)- CHD7

Chediak-Higashi syndrome, 214500 (3)- LYST

Cherubism, 118400 (3)- SH3BP2

Chilblain lupus, 610448 (3)- TREX1

Choanal atresia and lymphedema, 613611 (3)- PTPN14

Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)- ABCB11

Cholestasis, benign recurrent intrahepatic, 243300 (3)- ATP8B1

Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)- ATP8B1

Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)- ABCB4

Cholestasis, progressive familial intrahepatic 1, 211600 (3)- ATP8B1

Cholestasis, progressive familial intrahepatic 2, 601847 (3)- ABCB11

Cholestasis, progressive familial intrahepatic 3, 602347 (3)- ABCB4

Cholestasis, progressive familial intrahepatic 4, 615878 (3)- TJP2

Cholestasis, progressive familial intrahepatic, 5, 617049 (3)- NR1H4

Cholesteryl ester storage disease, 278000 (3)- LIPA

Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3)- IMPAD1

Chondrodysplasia, Grebe type, 200700 (3)- GDF5

Chondrosarcoma, 215300 (3)- EXT1

Chorea, hereditary benign, 118700 (3)- NKX2-1

Choreoacanthocytosis, 200150 (3)- VPS13A

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)- NKX2-1

Choroid plexus papilloma, 260500 (3)- TP53

Choroidal dystrophy, central areolar 2, 613105 (3)- PRPH2

Choroideremia, 303100 (3)- CHM

Chromosome 5q14.3 deletion syndrome, 613443 (4)- MEF2C

Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)- NCF1

Chronic granulomatous disease, X-linked, 306400 (3)- CYBB

Chudley-McCullough syndrome, 604213 (3)- GPSM2

Chylomicron retention disease, 246700 (3)- SAR1B

Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)- DNAI1

Ciliary dyskinesia, primary, 11, 612649 (3)- RSPH4A

Ciliary dyskinesia, primary, 12, 612650 (3)- RSPH9

Ciliary dyskinesia, primary, 13, 613193 (3)- DNAAF1

Ciliary dyskinesia, primary, 14, 613807 (3)- CCDC39

Ciliary dyskinesia, primary, 15, 613808 (3)- CCDC40

Ciliary dyskinesia, primary, 16, 614017 (3)- DNAL1

Ciliary dyskinesia, primary, 17, 614679 (3)- CCDC103

Ciliary dyskinesia, primary, 19, 614935 (3)- LRRC6

Ciliary dyskinesia, primary, 2, 606763 (3)- DNAAF3

Ciliary dyskinesia, primary, 20, 615067 (3)- CCDC114

Ciliary dyskinesia, primary, 29, 615872 (3)- CCNO

Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)- DNAH5

Ciliary dyskinesia, primary, 40, 618300 (3)- DNAH9

Ciliary dyskinesia, primary, 5, 608647 (3)- HYDIN

Ciliary dyskinesia, primary, 6, 610852 (3)- NME8

Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)- DNAH11

Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)- DNAI2

CINCA syndrome, 607115 (3)- NLRP3

Cirrhosis due to liver phosphorylase kinase deficiency (3)- PHKG2

Citrullinemia, 215700 (3)- ASS1

Citrullinemia, adult-onset type II, 603471 (3)- SLC25A13

Citrullinemia, type II, neonatal-onset, 605814 (3)- SLC25A13

CLAPO syndrome, somatic, 613089 (3)- PIK3CA

CLOVE syndrome, somatic, 612918 (3)- PIK3CA

COACH syndrome, 216360 (3)- TMEM67

COACH syndrome, 216360 (3)- CC2D2A

COACH syndrome, 216360 (3)- RPGRIP1L

Cockayne syndrome, type A, 216400 (3)- ERCC8

Codeine sensitivity, 608902 (3)- CYP2D6

Coenzyme Q10 deficiency, primary, 1, 607426 (3)- COQ2

Coenzyme Q10 deficiency, primary, 2, 614651 (3)- PDSS1

Coenzyme Q10 deficiency, primary, 3, 614652 (3)- PDSS2

Coenzyme Q10 deficiency, primary, 5, 614654 (3)- COQ9

Coenzyme Q10 deficiency, primary, 6, 614650 (3)- COQ6

Coffin-Lowry syndrome, 303600 (3)- RPS6KA3

Coffin-Siris syndrome 1, 135900 (3)- ARID1B

Coffin-Siris syndrome 2, 614607 (3)- ARID1A

Coffin-Siris syndrome 3, 614608 (3)- SMARCB1

Coffin-Siris syndrome 4, 614609 (3)- SMARCA4

Coffin-Siris syndrome 5, 616938 (3)- SMARCE1

Cognitive impairment with or without cerebellar ataxia, 614306 (3)- SCN8A

Cohen syndrome, 216550 (3)- VPS13B

Colchicine resistance, 120080 (3)- ABCB1

Cold-induced sweating syndrome 3, 617055 (3)- KLHL7

Cole disease, 615522 (3)- ENPP1

Colon cancer, advanced, somatic, 114500 (3)- SRC

Colorblindness, deutan, 303800 (3)- OPN1MW

Colorblindness, protan, 303900 (3)- OPN1LW

Colorblindness, tritan, 190900 (3)- OPN1SW

Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)- MUTYH

Colorectal cancer with chromosomal instability, somatic (3)- BUB1

Colorectal cancer, 114500 (3)- TP53

Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)- MSH2

Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)- MLH1

Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)- PMS2

Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)- MSH6

Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)- TGFBR2

Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)- MLH3

Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)- EPCAM

Colorectal cancer, somatic (3)- BRAF

Colorectal cancer, somatic, 114500 (3)- AKT1

Colorectal cancer, somatic, 114500 (3)- APC

Colorectal cancer, somatic, 114500 (3)- AXIN2

Colorectal cancer, somatic, 114500 (3)- BUB1B

Colorectal cancer, somatic, 114500 (3)- CTNNB1

Colorectal cancer, somatic, 114500 (3)- DCC

Colorectal cancer, somatic, 114500 (3)- EP300

Colorectal cancer, somatic, 114500 (3)- FGFR3

Colorectal cancer, somatic, 114500 (3)- FLCN

Colorectal cancer, somatic, 114500 (3)- MLH3

Colorectal cancer, somatic, 114500 (3)- NRAS

Colorectal cancer, somatic, 114500 (3)- PIK3CA

Colorectal cancer, susceptibility to, 10, 612591 (3)- POLD1

Colorectal cancer, susceptibility to, 114500 (3)- CCND1

Colorectal cancer, susceptibility to, 12, 615083 (3)- POLE

Colorectal cancer, susceptibility to, 3, 612229 (3)- SMAD7

Colostrum secretion, variation in, 117800 (3)- ABCC11

Combined cellular and humoral immune defects with granulomas, 233650 (3)- RAG1

Combined cellular and humoral immune defects with granulomas, 233650 (3)- RAG2

Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)- SLC25A1

Combined factor V and VIII deficiency, 227300 (3)- LMAN1

Combined hyperlipidemia, familial, 144250 (3)- LPL

Combined immunodeficiency, X-linked, moderate, 312863 (3)- IL2RG

Combined malonic and methylmalonic aciduria, 614265 (3)- ACSF3

Combined oxidative phosphorylation deficiency 1, 609060 (3)- GFM1

Combined oxidative phosphorylation deficiency 10, 614702 (3)- MTO1

Combined oxidative phosphorylation deficiency 11, 614922 (3)- RMND1

Combined oxidative phosphorylation deficiency 12, 614924 (3)- EARS2

Combined oxidative phosphorylation deficiency 13, 614932 (3)- PNPT1

Combined oxidative phosphorylation deficiency 14, 614946 (3)- FARS2

Combined oxidative phosphorylation deficiency 15, 614947 (3)- MTFMT

Combined oxidative phosphorylation deficiency 17, 615440 (3)- ELAC2

Combined oxidative phosphorylation deficiency 18, 615578 (3)- SFXN4

Combined oxidative phosphorylation deficiency 2, 610498 (3)- MRPS16

Combined oxidative phosphorylation deficiency 20, 615917 (3)- VARS2

Combined oxidative phosphorylation deficiency 23, 616198 (3)- GTPBP3

Combined oxidative phosphorylation deficiency 24, 616239 (3)- NARS2

Combined oxidative phosphorylation deficiency 3, 610505 (3)- TSFM

Combined oxidative phosphorylation deficiency 37, 618329 (3)- MICOS13

Combined oxidative phosphorylation deficiency 4, 610678 (3)- TUFM

Combined oxidative phosphorylation deficiency 5, 611719 (3)- MRPS22

Combined oxidative phosphorylation deficiency 6, 300816 (3)- AIFM1

Combined oxidative phosphorylation deficiency 7, 613559 (3)- C12orf65

Combined oxidative phosphorylation deficiency 8, 614096 (3)- AARS2

Combined oxidative phosphorylation deficiency 9, 614582 (3)- MRPL3

Combined SAP deficiency, 611721 (3)- PSAP

COMMAD syndrome, 617306 (3)- MITF

Complement factor H deficiency, 609814 (3)- CFH

Complement factor I deficiency, 610984 (3)- CFI

Cone dystrophy 4, 613093 (3)- PDE6C

Cone dystrophy-3, 602093 (3)- GUCA1A

Cone-rod dystrophy 10, 610283 (3)- SEMA4A

Cone-rod dystrophy 11, 610381 (3)- RAX2

Cone-rod dystrophy 12, 612657 (3)- PROM1

Cone-rod dystrophy 13, 608194 (3)- RPGRIP1

Cone-rod dystrophy 14, 602093 (3)- GUCA1A

Cone-rod dystrophy 15, 613660 (3)- CDHR1

Cone-rod dystrophy 16, 614500 (3)- C8orf37

Cone-rod dystrophy 3, 604116 (3)- ABCA4

Cone-rod dystrophy 5, 600977 (3)- PITPNM3

Cone-rod dystrophy 6, 601777 (3)- GUCY2D

Cone-rod dystrophy 7, 603649 (3)- RIMS1

Cone-rod dystrophy 9, 612775 (3)- ADAM9

Cone-rod dystrophy, 604393 (3)- AIPL1

Cone-rod dystrophy, X-linked, 1, 304020 (3)- RPGR

Cone-rod dystrophy, X-linked, 3, 300476 (3)- CACNA1F

Cone-rod retinal dystrophy-2, 120970 (3)- CRX

Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)- CABP4

Congenital bilateral absence of vas deferens, 277180 (3)- CFTR

Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)- CTDP1

Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)- SLC33A1

Congenital disorder of glycosylation, type Ia, 212065 (3)- PMM2

Congenital disorder of glycosylation, type Ib, 602579 (3)- MPI

Congenital disorder of glycosylation, type Ic, 603147 (3)- ALG6

Congenital disorder of glycosylation, type Id, 601110 (3)- ALG3

Congenital disorder of glycosylation, type Ie, 608799 (3)- DPM1

Congenital disorder of glycosylation, type If, 609180 (3)- MPDU1

Congenital disorder of glycosylation, type Ig, 607143 (3)- ALG12

Congenital disorder of glycosylation, type Ih, 608104 (3)- ALG8

Congenital disorder of glycosylation, type IIa, 212066 (3)- MGAT2

Congenital disorder of glycosylation, type IIb, 606056 (3)- MOGS

Congenital disorder of glycosylation, type IIc, 266265 (3)- SLC35C1

Congenital disorder of glycosylation, type IId, 607091 (3)- B4GALT1

Congenital disorder of glycosylation, type IIe, 608779 (3)- COG7

Congenital disorder of glycosylation, type IIf, 603585 (3)- SLC35A1

Congenital disorder of glycosylation, type IIg, 611209 (3)- COG1

Congenital disorder of glycosylation, type IIh, 611182 (3)- COG8

Congenital disorder of glycosylation, type IIi, 613612 (3)- COG5

Congenital disorder of glycosylation, type IIj, 613489 (3)- COG4

Congenital disorder of glycosylation, type IIk, 614727 (3)- TMEM165

Congenital disorder of glycosylation, type IIl, 614576 (3)- COG6

Congenital disorder of glycosylation, type IIm, 300896 (3)- SLC35A2

Congenital disorder of glycosylation, type Ij, 608093 (3)- DPAGT1

Congenital disorder of glycosylation, type Ik, 608540 (3)- ALG1

Congenital disorder of glycosylation, type Il, 608776 (3)- ALG9

Congenital disorder of glycosylation, type Im, 610768 (3)- DOLK

Congenital disorder of glycosylation, type In, 612015 (3)- RFT1

Congenital disorder of glycosylation, type Ip, 613661 (3)- ALG11

Congenital disorder of glycosylation, type Iq, 612379 (3)- SRD5A3

Congenital disorder of glycosylation, type It, 614921 (3)- PGM1

Congenital disorder of glycosylation, type Iu, 615042 (3)- DPM2

Congenital heart defects and skeletal malformations syndrome, 617602 (3)- ABL1

Congenital heart defects, multiple types, 6, 613854 (3)- GDF1

Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)- ZIC3

Congenital heart defects, nonsyndromic, 2, 614980 (3)- TAB2

Congenital myopathy with excess of muscle spindles, 218040 (3)- HRAS

Congenital short bowel syndrome, 300048 (3)- FLNA

Congestive heart failure and beta-blocker response, modifier of (3)- ADRB1

Conotruncal anomaly face syndrome, 217095 (3)- TBX1

Conotruncal heart malformations, 217095 (3)- NKX2-6

Conotruncal heart malformations, variable, 217095 (3)- NKX2-5

Contractural arachnodactyly, congenital, 121050 (3)- FBN2

Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 (3)- MYH3

Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469 (3)- MYH3

Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)- PRRT2

Coproporphyria, 121300 (3)- CPOX

Cornea plana 2, autosomal recessive, 217300 (3)- KERA

Corneal clouding, autosomal recessive (3)- APOA1

Corneal dystrophy, Avellino type, 607541 (3)- TGFBI

Corneal dystrophy, congenital stromal, 610048 (3)- DCN

Corneal dystrophy, epithelial basement membrane, 121820 (3)- TGFBI

Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)- COL8A2

Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)- TCF4

Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)- SLC4A11

Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)- ZEB1

Corneal dystrophy, gelatinous drop-like, 204870 (3)- TACSTD2

Corneal dystrophy, Groenouw type I, 121900 (3)- TGFBI

Corneal dystrophy, lattice type I, 122200 (3)- TGFBI

Corneal dystrophy, lattice type IIIA, 608471 (3)- TGFBI

Corneal dystrophy, posterior polymorphous 2, 609140 (3)- COL8A2

Corneal dystrophy, posterior polymorphous, 3, 609141 (3)- ZEB1

Corneal dystrophy, posterior polymorphous, 4, 618031 (3)- GRHL2

Corneal dystrophy, Reis-Bucklers type, 608470 (3)- TGFBI

Corneal dystrophy, Schnyder type, 121800 (3)- UBIAD1

Corneal dystrophy, Thiel-Behnke type, 602082 (3)- TGFBI

Corneal endothelial dystrophy and perceptive deafness, 217400 (3)- SLC4A11

Corneal endothelial dystrophy, autosomal recessive, 217700 (3)- SLC4A11

Corneal fleck dystrophy, 121850 (3)- PIKFYVE

Cornelia de Lange syndrome 1, 122470 (3)- NIPBL

Cornelia de Lange syndrome 2, 300590 (3)- SMC1A

Cornelia de Lange syndrome 3, 610759 (3)- SMC3

Cornelia de Lange syndrome 5, 300882 (3)- HDAC8

Coronary artery disease, autosomal dominant, 1, 608320 (3)- MEF2A

Coronary artery disease, severe, susceptibility to, 617347 (3)- APOE

Coronary artery disease, susceptibility to (1)- LPA

Coronary artery disease, susceptibility to (3)- IRS1

Coronary artery spasm 1, susceptibility to (3)- NOS3

Coronary heart disease, susceptibility to, 7, 610938 (3)- CD36

Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)- IGBP1

Corpus callosum, partial agenesis of, 304100 (3)- L1CAM

Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)- TUBB3

Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)- TUBB2B

Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)- TUBA8

Cortical dysplasia-focal epilepsy syndrome, 610042 (3)- CNTNAP2

Cortical malformations, occipital, 614115 (3)- LAMC3

Cortisone reductase deficiency 1, 604931 (3)- H6PD

Cortisone reductase deficiency 2, 614662 (3)- HSD11B1

Costello syndrome, 218040 (3)- HRAS

Cowchock syndrome, 310490 (3)- AIFM1

Cowden syndrome 1, 158350 (3)- PTEN

Cowden syndrome 4, 615107 (3)- KLLN

Cowden syndrome 5, 615108 (3)- PIK3CA

Cowden syndrome 6, 615109 (3)- AKT1

CPT deficiency, hepatic, type IA, 255120 (3)- CPT1A

CPT II deficiency, infantile, 600649 (3)- CPT2

CPT II deficiency, lethal neonatal, 608836 (3)- CPT2

CPT II deficiency, myopathic, stress-induced, 255110 (3)- CPT2

CR1 deficiency (1)- CR1

Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)- SOST

Cranioectodermal dysplasia 1, 218330 (3)- IFT122

Craniofacial-deafness-hand syndrome, 122880 (3)- PAX3

Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)- FGFR2

Craniolenticulosutural dysplasia, 607812 (3)- SEC23A

Craniometaphyseal dysplasia, autosomal recessive, 218400 (3)- GJA1

Cranioosteoarthropathy, 259100 (3)- HPGD

Craniosynostosis 1, 123100 (3)- TWIST1

Craniosynostosis 7, susceptibility to, 617439 (3)- SMAD6

Craniosynostosis, nonspecific (3)- FGFR2

CRASH syndrome, 303350 (3)- L1CAM

Creatine phosphokinase, elevated serum, 123320 (3)- CAV3

Creutzfeldt-Jakob disease, 123400 (3)- PRNP

Creutzfeldt-Jakob disease, variant, resistance to, 123400 (3)- HLA-DQB1

Crigler-Najjar syndrome, type I, 218800 (3)- UGT1A1

Crigler-Najjar syndrome, type II, 606785 (3)- UGT1A1

Crohn disease-associated growth failure, 266600 (3)- IL6

Crouzon syndrome with acanthosis nigricans, 612247 (3)- FGFR3

Crouzon syndrome, 123500 (3)- FGFR2

Cryohydrocytosis, 185020 (3)- SLC4A1

Cryptorchidism, 219050 (3)- INSL3

Culler-Jones syndrome, 615849 (3)- GLI2

Currarino syndrome, 176450 (3)- MNX1

Cutis laxa, autosomal dominant 2, 614434 (3)- FBLN5

Cutis laxa, autosomal dominant 3, 616603 (3)- ALDH18A1

Cutis laxa, autosomal dominant, 123700 (3)- ELN

Cutis laxa, autosomal recessive, type IA, 219100 (3)- FBLN5

Cutis laxa, autosomal recessive, type IB, 614437 (3)- EFEMP2

Cutis laxa, autosomal recessive, type IC, 613177 (3)- LTBP4

Cutis laxa, autosomal recessive, type IIA, 219200 (3)- ATP6V0A2

Cutis laxa, autosomal recessive, type IIIA, 219150 (3)- ALDH18A1

Cyanosis, transient neonatal, 613977 (3)- HBG2

Cylindromatosis, familial, 132700 (3)- CYLD

Cystathioninuria, 219500 (3)- CTH

Cystic fibrosis, 219700 (3)- CFTR

Cystinosis, atypical nephropathic, 219800 (3)- CTNS

Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)- CTNS

Cystinosis, nephropathic, 219800 (3)- CTNS

Cystinosis, ocular nonnephropathic, 219750 (3)- CTNS

Cystinuria, 220100 (3)- SLC3A1

Czech dysplasia, 609162 (3)- COL2A1

D

D-2-hydroxyglutaric aciduria 2, 613657 (3)- IDH2

D-2-hydroxyglutaric aciduria, 600721 (3)- D2HGDH

Danon disease, 300257 (3)- LAMP2

Darier disease, 124200 (3)- ATP2A2

D-bifunctional protein deficiency, 261515 (3)- HSD17B4

Deafness , autosomal recessive 86, 614617 (3)- TBC1D24

Deafness, autosomal dominant 1, 124900 (3)- DIAPH1

Deafness, autosomal dominant 10, 601316 (3)- EYA4

Deafness, autosomal dominant 11, 601317 (3)- MYO7A

Deafness, autosomal dominant 13, 601868 (3)- COL11A2

Deafness, autosomal dominant 15, 602459 (3)- POU4F3

Deafness, autosomal dominant 17, 603622 (3)- MYH9

Deafness, autosomal dominant 20/26, 604717 (3)- ACTG1

Deafness, autosomal dominant 22, 606346 (3)- MYO6

Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)- MYO6

Deafness, autosomal dominant 23, 605192 (3)- SIX1

Deafness, autosomal dominant 25, 605583 (3)- SLC17A8

Deafness, autosomal dominant 28, 608641 (3)- GRHL2

Deafness, autosomal dominant 2A, 600101 (3)- KCNQ4

Deafness, autosomal dominant 2B, 612644 (3)- GJB3

Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)- NLRP3

Deafness, autosomal dominant 36, 606705 (3)- TMC1

Deafness, autosomal dominant 3A, 601544 (3)- GJB2

Deafness, autosomal dominant 3B, 612643 (3)- GJB6

Deafness, autosomal dominant 40, 616357 (3)- CRYM

Deafness, autosomal dominant 4A, 600652 (3)- MYH14

Deafness, autosomal dominant 4B, 614614 (3)- CEACAM16

Deafness, autosomal dominant 5, 600994 (3)- GSDME

Deafness, autosomal dominant 50, 613074 (3)- MIR96

Deafness, autosomal dominant 6/14/38, 600965 (3)- WFS1

Deafness, autosomal dominant 65, 616044 (3)- TBC1D24

Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3)- KITLG

Deafness, autosomal dominant 73, 617663 (3)- PTPRQ

Deafness, autosomal dominant 8/12, 601543 (3)- TECTA

Deafness, autosomal dominant 9, 601369 (3)- COCH

Deafness, autosomal dominant, with peripheral neuropathy (3)- GJB3

Deafness, autosomal recessive (3)- GJB3

Deafness, autosomal recessive 111, 618145 (3)- MPZL2

Deafness, autosomal recessive 113, 618410 (3)- CEACAM16

Deafness, autosomal recessive 12, 601386 (3)- CDH23

Deafness, autosomal recessive 15, 601869 (3)- GIPC3

Deafness, autosomal recessive 16, 603720 (3)- STRC

Deafness, autosomal recessive 18A, 602092 (3)- USH1C

Deafness, autosomal recessive 1A, 220290 (3)- GJB2

Deafness, autosomal recessive 1B, 612645 (3)- GJB6

Deafness, autosomal recessive 2, 600060 (3)- MYO7A

Deafness, autosomal recessive 21, 603629 (3)- TECTA

Deafness, autosomal recessive 22, 607039 (3)- OTOA

Deafness, autosomal recessive 23, 609533 (3)- PCDH15

Deafness, autosomal recessive 24, 611022 (3)- RDX

Deafness, autosomal recessive 25, 613285 (3)- GRXCR1

Deafness, autosomal recessive 28, 609823 (3)- TRIOBP

Deafness, autosomal recessive 29, 614035 (3)- CLDN14

Deafness, autosomal recessive 3, 600316 (3)- MYO15A

Deafness, autosomal recessive 30, 607101 (3)- MYO3A

Deafness, autosomal recessive 31, 607084 (3)- WHRN

Deafness, autosomal recessive 35, 608565 (3)- ESRRB

Deafness, autosomal recessive 36, 609006 (3)- ESPN

Deafness, autosomal recessive 37, 607821 (3)- MYO6

Deafness, autosomal recessive 39, 608265 (3)- HGF

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3)- SLC26A4

Deafness, autosomal recessive 42, 609646 (3)- ILDR1

Deafness, autosomal recessive 48, 609439 (3)- CIB2

Deafness, autosomal recessive 49, 610153 (3)- MARVELD2

Deafness, autosomal recessive 53, 609706 (3)- COL11A2

Deafness, autosomal recessive 57, 618003 (3)- PDZD7

Deafness, autosomal recessive 59, 610220 (3)- PJVK

Deafness, autosomal recessive 6, 600971 (3)- TMIE

Deafness, autosomal recessive 63, 611451 (3)- LRTOMT

Deafness, autosomal recessive 67, 610265 (3)- LHFPL5

Deafness, autosomal recessive 7, 600974 (3)- TMC1

Deafness, autosomal recessive 70, 614934 (3)- PNPT1

Deafness, autosomal recessive 74, 613718 (3)- MSRB3

Deafness, autosomal recessive 77, 613079 (3)- LOXHD1

Deafness, autosomal recessive 79, 613307 (3)- TPRN

Deafness, autosomal recessive 8/10, 601072 (3)- TMPRSS3

Deafness, autosomal recessive 84A, 613391 (3)- PTPRQ

Deafness, autosomal recessive 89, 613916 (3)- KARS

Deafness, autosomal recessive 9, 601071 (3)- OTOF

Deafness, digenic GJB2/GJB6, 220290 (3)- GJB6

Deafness, digenic, GJB2/GJB3, 220290 (3)- GJB3

Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)- ESPN

Deafness, X-linked 1, 304500 (3)- PRPS1

Deafness, X-linked 2, 304400 (3)- POU3F4

Deafness, X-linked 4, 300066 (3)- SMPX

Deafness, X-linked 5, 300614 (3)- AIFM1

Debrisoquine sensitivity, 608902 (3)- CYP2D6

Deep venous thrombosis, protection against, 300807 (3)- F9

Dejerine-Sottas disease, 145900 (3)- EGR2

Dejerine-Sottas disease, 145900 (3)- MPZ

Dejerine-Sottas disease, 145900 (3)- PMP22

Dejerine-Sottas disease, 145900 (3)- PRX

Delta-beta thalassemia, 141749 (3)- HBB

Dementia, familial British, 176500 (3)- ITM2B

Dementia, familial Danish, 117300 (3)- ITM2B

Dementia, familial, nonspecific, 600795 (3)- CHMP2B

Dementia, frontotemporal, 600274 (3)- PSEN1

Dementia, frontotemporal, with or without parkinsonism, 600274 (3)- MAPT

Dementia, Lewy body, 127750 (3)- SNCA

Dementia, Lewy body, 127750 (3)- SNCB

Dementia, vascular, susceptibility to (3)- TNF

Dent disease 2, 300555 (3)- OCRL

Dent disease, 300009 (3)- CLCN5

Dentatorubro-pallidoluysian atrophy, 125370 (3)- ATN1

Denys-Drash syndrome, 194080 (3)- WT1

Dermatitis, atopic, susceptibility to, 2, 605803 (3)- FLG

Dermatopathia pigmentosa reticularis, 125595 (3)- KRT14

Desbuquois dysplasia 2, 615777 (3)- XYLT1

Desmoid disease, hereditary, 135290 (3)- APC

Developmental delay and seizures with or without movement abnormalities, 617836 (3)- DHDDS

D-glyceric aciduria, 220120 (3)- GLYCTK

Diabetes insipidus, nephrogenic, 125800 (3)- AQP2

Diabetes insipidus, nephrogenic, 304800 (3)- AVPR2

Diabetes insipidus, neurohypophyseal, 125700 (3)- AVP

Diabetes mellitus, insulin-dependent, 12, 601388 (3)- CTLA4

Diabetes mellitus, insulin-dependent, 2, 125852 (3)- INS

Diabetes mellitus, insulin-dependent, 20, 612520 (3)- HNF1A

Diabetes mellitus, insulin-dependent, 22, 612522 (3)- CCR5

Diabetes mellitus, insulin-dependent, 222100 (3)- HNF1A

Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)- INSR

Diabetes mellitus, ketosis-prone, susceptibility to, 612227 (3)- PAX4

Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)- GLIS3

Diabetes mellitus, noninsulin-dependent 1, 601283 (3)- CAPN10

Diabetes mellitus, noninsulin-dependent, 125853 (3)- HNF4A

Diabetes mellitus, noninsulin-dependent, 125853 (3)- IRS1

Diabetes mellitus, noninsulin-dependent, 125853 (3)- IRS2

Diabetes mellitus, noninsulin-dependent, 125853 (3)- LIPC

Diabetes mellitus, noninsulin-dependent, 125853 (3)- NEUROD1

Diabetes mellitus, noninsulin-dependent, 125853 (3)- ABCC8

Diabetes mellitus, noninsulin-dependent, 125853 (3)- HNF1B

Diabetes mellitus, noninsulin-dependent, 2, 125853 (3)- HNF1A

Diabetes mellitus, noninsulin-dependent, association with, 125853 (3)- WFS1

Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3)- GCK

Diabetes mellitus, non-insulin-dependent, susceptibility to, 125853 (3)- ENPP1

Diabetes mellitus, permanent neonatal, 606176 (3)- ABCC8

Diabetes mellitus, permanent neonatal, 606176 (3)- GCK

Diabetes mellitus, permanent neonatal, 606176 (3)- INS

Diabetes mellitus, transient neonatal 2, 610374 (3)- ABCC8

Diabetes mellitus, transient neonatal, 1, 601410 (3)- ZFP57

Diabetes mellitus, transient neonatal, 3, 610582 (3)- KCNJ11

Diabetes mellitus, type 2, 125853 (3)- PAX4

Diabetes mellitus, type 2, susceptibility to, 125853 (3)- KCNJ11

Diabetes mellitus, type II, 125853 (3)- AKT2

Diabetes mellitus, type II, susceptibility to, 125853 (3)- PDX1

Diabetes, mellitus, insulin-dependent, susceptibility to, 10, 601942 (3)- IL2RA

Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)- KCNJ11

Diabetes, susceptibility to, 222100, 125853 (3)- IL6

Diabetes, type 2, 125853 (3)- PPARG

Diamond-Blackfan anemia 1, 105650 (3)- RPS19

Diamond-Blackfan anemia 10, 613309 (3)- RPS26

Diamond-blackfan anemia 3, 610629 (3)- RPS24

Diamond-Blackfan anemia 4, 612527 (3)- RPS17

Diamond-Blackfan anemia 5, 612528 (3)- RPL35A

Diamond-Blackfan anemia 6, 612561 (3)- RPL5

Diamond-Blackfan anemia 7, 612562 (3)- RPL11

Diamond-Blackfan anemia 8, 612563 (3)- RPS7

Diamond-Blackfan anemia 9, 613308 (3)- RPS10

Diaphragmatic hernia 3, 610187 (3)- ZFPM2

Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)- MTAP

Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)- EPCAM

Diarrhea 6, 614616 (3)- GUCY2C

Dias-Logan syndrome, 617101 (3)- BCL11A

DiGeorge syndrome, 188400 (3)- TBX1

DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)- DGCR2

Digital arthropathy-brachydactyly, familial, 606835 (3)- TRPV4

Digital clubbing, isolated congenital, 119900 (3)- HPGD

Dihydrolipoamide dehydrogenase deficiency, 246900 (3)- DLD

Dihydropyrimidine dehydrogenase deficiency, 274270 (3)- DPYD

Dihydropyrimidinuria, 222748 (3)- DPYS

Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)- DSP

Dimethylglycine dehydrogenase deficiency, 605850 (3)- DMGDH

Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)- POR

DNA topoisomerase I, camptothecin-resistant (3)- TOP1

Donnai-Barrow syndrome, 222448 (3)- LRP2

DOORS syndrome, 220500 (3)- TBC1D24

Dowling-Degos disease 1, 179850 (3)- KRT5

Doyne honeycomb degeneration of retina, 126600 (3)- EFEMP1

Dravet syndrome, modifier of, 607208 (3)- SCN9A

Drug metabolism, altered, CES1-related, 618057 (3)- CES1

Drug metabolism, altered, CYP2C8-related, 618018 (3)- CYP2C8

Drug-induced liver injury due to flucloxacillin (3)- HLA-B

Du Pan syndrome, 228900 (3)- GDF5

Duane retraction syndrome 2, 604356 (3)- CHN1

Duane retraction syndrome 3, 617041 (3)- MAFB

Duane-radial ray syndrome, 607323 (3)- SALL4

Duchenne muscular dystrophy, 310200 (3)- DMD

Dursun syndrome, 612541 (3)- G6PC3

Dysalbuminemic hyperthyroxinemia, 615999 (3)- ALB

Dyschromatosis symmetrica hereditaria, 127400 (3)- ADAR

Dyschromatosis universalis hereditaria 3, 615402 (3)- ABCB6

Dyserythropoietic anemia, congenital, type Ia, 224120 (3)- CDAN1

Dyserythropoietic anemia, congenital, type II, 224100 (3)- SEC23B

Dyserythropoietic anemia, congenital, type IV, 613673 (3)- KLF1

Dysfibrinogenemia, congenital, 616004 (3)- FGA

Dysfibrinogenemia, congenital, 616004 (3)- FGB

Dysfibrinogenemia, congenital, 616004 (3)- FGG

Dyskeratosis congenita, autosomal dominant 1, 127550 (3)- TERC

Dyskeratosis congenita, autosomal dominant 2, 613989 (3)- TERT

Dyskeratosis congenita, autosomal dominant 3, 613990 (3)- TINF2

Dyskeratosis congenita, autosomal dominant 4, 615190 (3)- RTEL1

Dyskeratosis congenita, autosomal recessive 3, 613988 (3)- WRAP53

Dyskeratosis congenita, autosomal recessive 4, 613989 (3)- TERT

Dyskeratosis congenita, autosomal recessive 5, 615190 (3)- RTEL1

Dyskeratosis congenita, X-linked, 305000 (3)- DKC1

Dyskinesia, familial, with facial myokymia, 606703 (3)- ADCY5

Dysplasminogenemia, 217090 (3)- PLG

Dysprothrombinemia, 613679 (3)- F2

Dystonia 16, 612067 (3)- PRKRA

Dystonia 24, 615034 (3)- ANO3

Dystonia 25, 615073 (3)- GNAL

Dystonia 27, 616411 (3)- COL6A3

Dystonia 4, torsion, autosomal dominant, 128101 (3)- TUBB4A

Dystonia 6, torsion, 602629 (3)- THAP1

Dystonia 9, 601042 (3)- SLC2A1

Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)- SPR

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)- GCH1

Dystonia-11, myoclonic, 159900 (3)- SGCE

Dystonia-12, 128235 (3)- ATP1A3

Dystonia-Parkinsonism, X-linked, 314250 (3)- TAF1

Dystransthyretinemic hyperthyroxinemia, 145680 (3)- TTR

E

Earwax, wet/dry, 117800 (3)- ABCC11

EBD inversa, 226600 (3)- COL7A1

EBD, Bart type, 132000 (3)- COL7A1

EBD, localisata variant (3)- COL7A1

Ectodermal dysplasia 2, Clouston type, 129500 (3)- GJB6

Ectodermal dysplasia and immunodeficiency 1, 300291 (3)- IKBKG

Ectodermal dysplasia and immunodeficiency 2, 612132 (3)- NFKBIA

Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)- CDH3

Ectodermal dysplasia/short stature syndrome, 616029 (3)- GRHL2

Ectodermal dysplasia/skin fragility syndrome, 604536 (3)- PKP1

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)- IKBKG

Ectopia lentis et pupillae, 225200 (3)- ADAMTSL4

Ectopia lentis, familial, 129600 (3)- FBN1

Ectopia lentis, isolated, autosomal recessive, 225100 (3)- ADAMTSL4

EDICT syndrome, 614303 (3)- MIR184

Efavirenz central nervous system toxicity, susceptibility to, 614546 (3)- CYP2B6

Efavirenz, poor metabolism of, 614546 (3)- CYP2B6

Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)- COL1A1

Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)- COL1A2

Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)- COL1A2

Ehlers-Danlos syndrome, classic type, 1, 130000 (3)- COL5A1

Ehlers-Danlos syndrome, classic type, 2, 130010 (3)- COL5A2

Ehlers-Danlos syndrome, classic-like, 1 606408 (3)- TNXB

Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3)- PLOD1

Ehlers-Danlos syndrome, vascular type, 130050 (3)- COL3A1

Elliptocytosis-1, 611804 (3)- EPB41

Elliptocytosis-2, 130600 (3)- SPTA1

Elliptocytosis-3, 617948 (3)- SPTB

Emberger syndrome, 614038 (3)- GATA2

Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)- EMD

Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)- LMNA

Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)- LMNA

Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)- SYNE1

Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)- SYNE2

Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)- FHL1

Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)- TMEM43

Emphysema due to AAT deficiency, 613490 (3)- SERPINA1

Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)- SERPINA1

Encephalocraniocutaneous lipomatosis, 613001 (3)- FGFR1

Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)- MFF

Encephalopathy, acute, infection-induced, 3, susceptibility to, 608033 (3)- RANBP2

Encephalopathy, acute, infection-induced, 4, susceptibility to, 614212 (3)- CPT2

Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)- SERPINI1

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)- DNM1L

Encephalopathy, neonatal severe, 300673 (3)- MECP2

Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)- TBCE

Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)- BSCL2

Endocrine-cerebroosteodysplasia, 612651 (3)- ICK

Endometrial cancer, familial, 608089 (3)- MSH6

Endometrial cancer, susceptibility to, 608089 (3)- MLH3

Endometrial carcinoma, somatic, 608089 (3)- CDH1

Enhanced S-cone syndrome, 268100 (3)- NR2E3

Enlarged vestibular aqueduct, digenic, 600791 (3)- KCNJ10

Enolase deficiency (1)- ENO1

Epidermal nevus, somatic, 162900 (3)- NRAS

Epidermolysis bullosa dystrophica, AD, 131750 (3)- COL7A1

Epidermolysis bullosa dystrophica, AR, 226600 (3)- COL7A1

Epidermolysis bullosa of hands and feet, 131800 (3)- ITGB4

Epidermolysis bullosa pruriginosa, 604129 (3)- COL7A1

Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)- DST

Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)- KRT14

Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)- KRT5

Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)- KLHL24

Epidermolysis bullosa simplex, Koebner type, 131900 (3)- KRT14

Epidermolysis bullosa simplex, Koebner type, 131900 (3)- KRT5

Epidermolysis bullosa simplex, recessive 1, 601001 (3)- KRT14

Epidermolysis bullosa simplex, recessive 1, 601001 (3)- KRT5

Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)- KRT14

Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)- KRT5

Epidermolysis bullosa simplex-MCR, 609352 (3)- KRT5

Epidermolysis bullosa simplex-MP, 131960 (3)- KRT5

Epidermolysis bullosa, generalized atrophic benign, 226650 (3)- LAMA3

Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)- LAMA3

Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)- LAMB3

Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)- LAMC2

Epidermolysis bullosa, junctional, localisata variant, 226650 (3)- COL17A1

Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- COL17A1

Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- ITGB4

Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- LAMB3

Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- LAMC2

Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)- ITGB4

Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)- ITGA6

Epidermolysis bullosa, lethal acantholytic, 609638 (3)- DSP

Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)- EXPH5

Epidermolysis bullosa, pretibial, 131850 (3)- COL7A1

Epidermolytic hyperkeratosis, 113800 (3)- KRT1

Epidermolytic hyperkeratosis, 113800 (3)- KRT10

Epilepsy idiopathic generalized, susceptibility to, 8, 612899 (3)- CASR

Epilepsy, childhood absence, susceptibility to, 4, 611136 (3)- GABRA1

Epilepsy, childhood absence, susceptibility to, 5, 612269 (3)- GABRB3

Epilepsy, childhood absence, susceptibility to, 6, 611942 (3)- CACNA1H

Epilepsy, familial focal, with variable foci 1, 604364 (3)- DEPDC5

Epilepsy, familial temporal lobe, 1, 600512 (3)- LGI1

Epilepsy, familial temporal lobe, 5, 614417 (3)- CPA6

Epilepsy, familial temporal lobe, 7, 616436 (3)- RELN

Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)- GRIN2A

Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)- SCN1B

Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)- SCN1A

Epilepsy, generalized, with febrile seizures plus, type 3, 607681 (3)- GABRG2

Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to, 613060 (3)- GABRD

Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)- SCN9A

Epilepsy, idiopathic generalized, 10, 613060 (3)- GABRD

Epilepsy, idiopathic generalized, susceptibility to, 11, 607628 (3)- CLCN2

Epilepsy, idiopathic generalized, susceptibility to, 12, 614847 (3)- SLC2A1

Epilepsy, idiopathic generalized, susceptibility to, 6, 611942 (3)- CACNA1H

Epilepsy, idiopathic generalized, susceptibility to, 9, 607682 (3)- CACNB4

Epilepsy, juvenile absence, susceptibility to, 1, 607631 (3)- EFHC1

Epilepsy, juvenile absence, susceptibility to, 2, 607628 (3)- CLCN2

Epilepsy, juvenile myoclonic, susceptibility to, 10, 617924 (3)- ICK

Epilepsy, juvenile myoclonic, susceptibility to, 5, 611136 (3)- GABRA1

Epilepsy, juvenile myoclonic, susceptibility to, 6, 607682 (3)- CACNB4

Epilepsy, juvenile myoclonic, susceptibility to, 613060 (3)- GABRD

Epilepsy, juvenile myoclonic, susceptibility to, 8, 607628 (3)- CLCN2

Epilepsy, myoclonic, familial adult, 2, 607876 (3)- ADRA2B

Epilepsy, nocturnal frontal lobe, 1, 600513 (3)- CHRNA4

Epilepsy, nocturnal frontal lobe, 3, 605375 (3)- CHRNB2

Epilepsy, nocturnal frontal lobe, 5, 615005 (3)- KCNT1

Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)- CHRNA2

Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)- CSTB

Epilepsy, progressive myoclonic 1B, 612437 (3)- PRICKLE1

Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)- EPM2A

Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)- NHLRC1

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)- KCTD7

Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)- SCARB2

Epilepsy, progressive myoclonic 6, 614018 (3)- GOSR2

Epilepsy, pyridoxine-dependent, 266100 (3)- ALDH7A1

Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)- SYN1

Epileptic encephalopathy, childhood-onset, 615369 (3)- CHD2

Epileptic encephalopathy, early infantile, 1, 308350 (3)- ARX

Epileptic encephalopathy, early infantile, 11, 613721 (3)- SCN2A

Epileptic encephalopathy, early infantile, 12, 613722 (3)- PLCB1

Epileptic encephalopathy, early infantile, 13, 614558 (3)- SCN8A

Epileptic encephalopathy, early infantile, 14, 614959 (3)- KCNT1

Epileptic encephalopathy, early infantile, 16, 615338 (3)- TBC1D24

Epileptic encephalopathy, early infantile, 19, 615744 (3)- GABRA1

Epileptic encephalopathy, early infantile, 2, 300672 (3)- CDKL5

Epileptic encephalopathy, early infantile, 27, 616139 (3)- GRIN2B

Epileptic encephalopathy, early infantile, 29, 616339 (3)- AARS

Epileptic encephalopathy, early infantile, 3, 609304 (3)- SLC25A22

Epileptic encephalopathy, early infantile, 36, 300884 (3)- ALG13

Epileptic encephalopathy, early infantile, 39, 612949 (3)- SLC25A12

Epileptic encephalopathy, early infantile, 4, 612164 (3)- STXBP1

Epileptic encephalopathy, early infantile, 42, 617106 (3)- CACNA1A

Epileptic encephalopathy, early infantile, 43, 617113 (3)- GABRB3

Epileptic encephalopathy, early infantile, 5, 613477 (3)- SPTAN1

Epileptic encephalopathy, early infantile, 52, 617350 (3)- SCN1B

Epileptic encephalopathy, early infantile, 56, 617665 (3)- YWHAG

Epileptic encephalopathy, early infantile, 58, 617830 (3)- NTRK2

Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)- SCN1A

Epileptic encephalopathy, early infantile, 7, 613720 (3)- KCNQ2

Epileptic encephalopathy, early infantile, 74, 618396 (3)- GABRG2

Epileptic encephalopathy, early infantile, 8, 300607 (3)- ARHGEF9

Epileptic encephalopathy, early infantile, 9, 300088 (3)- PCDH19

Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3)- PPP3CA

Epiphyseal dysplasia, multiple, 2, 600204 (3)- COL9A2

Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)- COL9A3

Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)- COL2A1

Episodic ataxia, type 2, 108500 (3)- CACNA1A

Episodic ataxia, type 5, 613855 (3)- CACNB4

Episodic ataxia, type 6, 612656 (3)- SLC1A3

Episodic ataxia/myokymia syndrome, 160120 (3)- KCNA1

Episodic kinesigenic dyskinesia 1, 128200 (3)- PRRT2

Episodic pain syndrome, familial, 2, 615551 (3)- SCN10A

Epithelial recurrent erosion dystrophy, 122400 (3)- COL17A1

Erythermalgia, primary, 133020 (3)- SCN9A

Erythrocyte lactate transporter defect, 245340 (3)- SLC16A1

Erythrocytosis 6, 617980 (3)- HBB

Erythrocytosis 7, 617981 (3)- HBA2

Erythrocytosis, 7, 617981 (3)- HBA1

Erythrocytosis, familial, 1, 133100 (3)- EPOR

Erythrocytosis, familial, 2, 263400 (3)- VHL

Erythrocytosis, familial, 3, 609820 (3)- EGLN1

Erythrocytosis, familial, 4, 611783 (3)- EPAS1

Erythrocytosis, familial, 5, 617907 (3)- EPO

Erythrocytosis, familial, 8, 222800 (3)- BPGM

Erythrocytosis, somatic, 133100 (3)- JAK2

Erythrocytosis, somatic, 133100 (3)- SH2B3

Erythrokeratodermia variabilis et progressiva 1, 133200 (3)- GJB3

Erythrokeratodermia variabilis et progressiva 2, 617524 (3)- GJB4

Erythrokeratodermia variabilis et progressiva 3, 617525 (3)- GJA1

Erythrokeratodermia variabilis et progressiva 4, 617526 (3)- KDSR

Escobar syndrome, 265000 (3)- CHRNG

Esophageal cancer, alcohol-related, susceptibility to (3)- ALDH2

Esophageal cancer, somatic, 133239 (3)- TGFBR2

Esophageal carcinoma, somatic, 133239 (3)- DCC

Essential tremor, hereditary, 4, 614782 (3)- FUS

Estrogen resistance, 615363 (3)- ESR1

Ethylmalonic encephalopathy, 602473 (3)- ETHE1

Ewing sarcoma, 612219 (3)- EWSR1

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)- COX4I2

Exostoses, multiple, type 1, 133700 (3)- EXT1

Exostoses, multiple, type 2, 133701 (3)- EXT2

Exudative vitreoretinopathy 1, 133780 (3)- FZD4

Exudative vitreoretinopathy 2, X-linked, 305390 (3)- NDP

Exudative vitreoretinopathy 4, 601813 (3)- LRP5

Exudative vitreoretinopathy 5, 613310 (3)- TSPAN12

Exudative vitreoretinopathy 7, 617572 (3)- CTNNB1

F

Fabry disease, 301500 (3)- GLA

Fabry disease, cardiac variant, 301500 (3)- GLA

Facial paresis, hereditary congenital, 3, 614744 (3)- HOXB1

Factor V and factor VIII, combined deficiency of, 613625 (3)- MCFD2

Factor V deficiency, 227400 (3)- F5

Factor VII deficiency, 227500 (3)- F7

Factor X deficiency, 227600 (3)- F10

Factor XI deficiency, autosomal dominant, 612416 (3)- F11

Factor XI deficiency, autosomal recessive, 612416 (3)- F11

Factor XII deficiency, 234000 (3)- F12

Factor XIIIA deficiency, 613225 (3)- F13A1

Factor XIIIB deficiency, 613235 (3)- F13B

Familial cold autoinflammatory syndrome 3, 614468 (3)- PLCG2

Familial cold inflammatory syndrome 1, 120100 (3)- NLRP3

Familial Mediterranean fever, AD, 134610 (3)- MEFV

Familial Mediterranean fever, AR, 249100 (3)- MEFV

Fanconi anemia, complementation group A, 227650 (3)- FANCA

Fanconi anemia, complementation group B, 300514 (3)- FANCB

Fanconi anemia, complementation group C, 227645 (3)- FANCC

Fanconi anemia, complementation group D1, 605724 (3)- BRCA2

Fanconi anemia, complementation group D2, 227646 (3)- FANCD2

Fanconi anemia, complementation group E, 600901 (3)- FANCE

Fanconi anemia, complementation group F, 603467 (3)- FANCF

Fanconi anemia, complementation group I, 609053 (3)- FANCI

Fanconi anemia, complementation group J, 609054 (3)- BRIP1

Fanconi anemia, complementation group N, 610832 (3)- PALB2

Fanconi anemia, complementation group O, 613390 (3)- RAD51C

Fanconi anemia, complementation group P, 613951 (3)- SLX4

Fanconi anemia, complementation group Q, 615272 (3)- ERCC4

Fanconi anemia, complementation group S, 617883 (3)- BRCA1

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)- HNF4A

Farber lipogranulomatosis, 228000 (3)- ASAH1

Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)- SMCHD1

Fatty liver, acute, of pregnancy, 609016 (3)- HADHA

Febrile seizures, familial, 11, 614418 (3)- CPA6

Febrile seizures, familial, 3A, 604403 (3)- SCN1A

Febrile seizures, familial, 3B, 613863 (3)- SCN9A

Febrile seizures, familial, 8, 607681 (3)- GABRG2

Feingold syndrome 1, 164280 (3)- MYCN

Fetal akinesia deformation sequence 1, 208150 (3)- MUSK

Fetal akinesia deformation sequence 2, 618388 (3)- RAPSN

Fetal hemoglobin quantitative trait locus 1, 141749 (3)- HBG1

Fetal hemoglobin quantitative trait locus 1, 141749 (3)- HBG2

FG syndrome 4, 300422 (3)- CASK

Fibrocalculous pancreatic diabetes, susceptibility to, 608189 (3)- SPINK1

Fibrochondrogenesis 1, 228520 (3)- COL11A1

Fibrochondrogenesis 2, 614524 (3)- COL11A2

Fibrodysplasia ossificans progressiva, 135100 (3)- ACVR1

Fibrosis of extraocular muscles, congenital, 1, 135700 (3)- KIF21A

Fibrosis of extraocular muscles, congenital, 2, 602078 (3)- PHOX2A

Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)- TUBB3

Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)- KIF21A

FILS syndrome, 615139 (3)- POLE

Fish-eye disease, 136120 (3)- LCAT

Fleck retina, familial benign, 228980 (3)- PLA2G5

Fletcher factor (prekallikrein) deficiency, 612423 (3)- KLKB1

Floating-Harbor syndrome, 136140 (3)- SRCAP

Focal cortical dysplasia, type II, somatic, 607341 (3)- MTOR

Focal cortical dysplasia, type II, somatic, 607341 (3)- TSC1

Focal dermal hypoplasia, 305600 (3)- PORCN

Folate malabsorption, hereditary, 229050 (3)- SLC46A1

Fontaine progeroid syndrome, 612289 (3)- SLC25A24

Forebrain defects (3)- TDGF1

Foveal hypoplasia 1, 136520 (3)- PAX6

Fragile X syndrome, 300624 (3)- FMR1

Fragile X tremor/ataxia syndrome, 300623 (3)- FMR1

Fraser syndrome 3, 617667 (3)- GRIP1

Frasier syndrome, 136680 (3)- WT1

Friedreich ataxia with retained reflexes, 229300 (3)- FXN

Friedreich ataxia, 229300 (3)- FXN

Frontometaphyseal dysplasia 1, 305620 (3)- FLNA

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)- C9orf72

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)- SQSTM1

Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)- GRN

Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)- TARDBP

Fructose intolerance, hereditary, 229600 (3)- ALDOB

Fucosidosis, 230000 (3)- FUCA1

Fucosyltransferase 6 deficiency, 613852 (3)- FUT6

Fumarase deficiency, 606812 (3)- FH

Fundus albipunctatus, 136880 (3)- RDH5

Fundus albipunctatus, 136880 (3)- RLBP1

Fundus flavimaculatus, 248200 (3)- ABCA4

G

GABA-transaminase deficiency, 613163 (3)- ABAT

Galactokinase deficiency with cataracts, 230200 (3)- GALK1

Galactosemia, 230400 (3)- GALT

Galactosialidosis, 256540 (3)- CTSA

Gallbladder disease 1, 600803 (3)- ABCB4

Gallbladder disease 4, 611465 (3)- ABCG8

Galloway-Mowat syndrome 4, 617730 (3)- TP53RK

GAPO syndrome, 230740 (3)- ANTXR1

Gardner syndrome, 175100 (3)- APC

Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3)- CDH1

Gastric cancer, somatic, 137215 (3)- KRAS

Gastric cancer, somatic, 613659 (3)- APC

Gastric cancer, somatic, 613659 (3)- ERBB2

Gastric cancer, somatic, 613659 (3)- FGFR2

Gastric cancer, somatic, 613659 (3)- IRF1

Gastric cancer, somatic, 613659 (3)- MUTYH

Gastric cancer, somatic, 613659 (3)- PIK3CA

Gastrointestinal stromal tumor, 606764 (3)- SDHB

Gastrointestinal stromal tumor, 606764 (3)- SDHC

Gastrointestinal stromal tumor, familial, 606764 (3)- KIT

Gastrointestinal stromal tumor, somatic or familial, 606764 (3)- PDGFRA

Gaucher disease, atypical, 610539 (3)- PSAP

Gaucher disease, perinatal lethal, 608013 (3)- GBA

Gaucher disease, type I, 230800 (3)- GBA

Gaucher disease, type II, 230900 (3)- GBA

Gaucher disease, type III, 231000 (3)- GBA

Gaucher disease, type IIIC, 231005 (3)- GBA

Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)- ROBO3

Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)- DCC

Geleophysic dysplasia 2, 614185 (3)- FBN1

Genitopatellar syndrome, 606170 (3)- KAT6B

Germ cell tumors, somatic, 273300 (3)- KIT

Gerstmann-Straussler disease, 137440 (3)- PRNP

Ghosal hematodiaphyseal syndrome, 231095 (3)- TBXAS1

Giant axonal neuropathy-1, 256850 (3)- GAN

Giant platelet disorder, isolated, 231200 (3)- GP1BB

Gigantism due to GHRF hypersecretion (1)- GHRH

Gilbert syndrome, 143500 (3)- UGT1A1

Gillespie syndrome, 206700 (3)- ITPR1

Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)- ALG9

Gitelman syndrome, 263800 (3)- SLC12A3

Glanzmann thrombasthenia, 273800 (3)- ITGA2B

Glanzmann thrombasthenia, 273800 (3)- ITGB3

Glaucoma 1, open angle, 1O, 613100 (3)- NTF4

Glaucoma 1, open angle, E, 137760 (3)- OPTN

Glaucoma 1, open angle, G, 609887 (3)- WDR36

Glaucoma 1A, primary open angle, 137750 (3)- MYOC

Glaucoma 3, primary congenital, D, 613086 (3)- LTBP2

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)- CYP1B1

Glaucoma, normal tension, susceptibility to, 606657 (3)- OPA1

Glaucoma, normal tension, susceptibility to, 606657 (3)- OPTN

Glioblastoma 3, 613029 (3)- BRCA2

Glioblastoma, somatic, 137800 (3)- ERBB2

Glioma susceptibility 1, 137800 (3)- TP53

Glioma susceptibility 2, 613028 (3)- PTEN

Glioma susceptibility 9, 616568 (3)- POT1

Glioma, susceptibility to, somatic, 137800 (3)- IDH1

Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)- UMOD

Glomerulopathy with fibronectin deposits 2, 601894 (3)- FN1

Glomerulosclerosis, focal segmental, 5, 613237 (3)- INF2

Glomerulosclerosis, focal segmental, 7, 616002 (3)- PAX2

GLOW syndrome, somatic mosaic, 618272 (3)- DICER1

Glucocorticoid deficiency 2, 607398 (3)- MRAP

Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)- NNT

Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)- MC2R

Glucocorticoid resistance, 615962 (3)- NR3C1

GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)- SLC2A1

GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)- SLC2A1

Glutamate formiminotransferase deficiency, 229100 (3)- FTCD

Glutamine deficiency, congenital, 610015 (3)- GLUL

Glutaric acidemia IIA, 231680 (3)- ETFA

Glutaric acidemia IIB, 231680 (3)- ETFB

Glutaric acidemia IIC, 231680 (3)- ETFDH

Glutaricaciduria, type I, 231670 (3)- GCDH

Glutathione synthetase deficiency, 266130 (3)- GSS

Glycerol kinase deficiency, 307030 (3)- GK

Glycerol quantitative trait locus, 614411 (3)- AQP7

Glycine encephalopathy, 605899 (3)- AMT

Glycine encephalopathy, 605899 (3)- GLDC

Glycogen storage disease 0, liver, 240600 (3)- GYS2

Glycogen storage disease 0, muscle, 611556 (3)- GYS1

Glycogen storage disease Ia, 232200 (3)- G6PC

Glycogen storage disease Ib, 232220 (3)- SLC37A4

Glycogen storage disease Ic, 232240 (3)- SLC37A4

Glycogen storage disease II, 232300 (3)- GAA

Glycogen storage disease IIIa, 232400 (3)- AGL

Glycogen storage disease IIIb, 232400 (3)- AGL

Glycogen storage disease IV, 232500 (3)- GBE1

Glycogen storage disease IXc, 613027 (3)- PHKG2

Glycogen storage disease of heart, lethal congenital, 261740 (3)- PRKAG2

Glycogen storage disease VI, 232700 (3)- PYGL

Glycogen storage disease VII, 232800 (3)- PFKM

Glycogen storage disease X, 261670 (3)- PGAM2

Glycogen storage disease XI, 612933 (3)- LDHA

Glycogen storage disease XII, 611881 (3)- ALDOA

Glycogen storage disease, type IXa1, 306000 (3)- PHKA2

Glycogen storage disease, type IXa2, 306000 (3)- PHKA2

Glycosylphosphatidylinositol deficiency, 610293 (3)- PIGM

GM1-gangliosidosis, type I, 230500 (3)- GLB1

GM1-gangliosidosis, type II, 230600 (3)- GLB1

GM1-gangliosidosis, type III, 230650 (3)- GLB1

GM2-gangliosidosis, AB variant, 272750 (3)- GM2A

GM2-gangliosidosis, several forms, 272800 (3)- HEXA

Gnathodiaphyseal dysplasia, 166260 (3)- ANO5

Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)- DICER1

Gout, PRPS-related, 300661 (3)- PRPS1

GRACILE syndrome, 603358 (3)- BCS1L

Gray platelet syndrome, 139090 (3)- NBEAL2

Greenberg skeletal dysplasia, 215140 (3)- LBR

Greig cephalopolysyndactyly syndrome, 175700 (3)- GLI3

Griscelli syndrome, type 2, 607624 (3)- RAB27A

Growth hormone deficiency with pituitary anomalies, 182230 (3)- HESX1

Growth hormone deficiency, isolated partial, 615925 (3)- GHSR

Growth hormone deficiency, isolated, type IA, 262400 (3)- GH1

Growth hormone deficiency, isolated, type IB, 612781 (3)- GH1

Growth hormone deficiency, isolated, type II, 173100 (3)- GH1

Growth hormone deficiency, isolated, type IV, 618157 (3)- GHRHR

Growth hormone insensitivity with immunodeficiency, 245590 (3)- STAT5B

Growth hormone insensitivity, partial, 604271 (3)- GHR

Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)- IGF1

Growth retardation, developmental delay, facial dysmorphism, 612938 (3)- FTO

Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)- OAT

H

H. pylori infection, susceptibility to, 600263 (3)- IFNGR1

Haddad syndrome, 209880 (3)- ASCL1

Hajdu-Cheney syndrome, 102500 (3)- NOTCH2

Hangover, susceptibility to, 610251 (3)- ALDH2

Harderoporphyria, 121300 (3)- CPOX

HARP syndrome, 607236 (3)- PANK2

Hartnup disorder, 234500 (3)- SLC6A19

Hartsfield syndrome, 615465 (3)- FGFR1

Hashimoto thyroiditis, 140300 (3)- CTLA4

Hawkinsinuria, 140350 (3)- HPD

HDL deficiency, type 2, 604091 (3)- ABCA1

HDL response to hormone replacement, augmented (3)- ESR1

Heart block, nonprogressive, 113900 (3)- SCN5A

Heart block, progressive, type IA, 113900 (3)- SCN5A

Heart-hand syndrome, Slovenian type, 610140 (3)- LMNA

Heimler syndrome 1, 234580 (3)- PEX1

Heimler syndrome 2, 616617 (3)- PEX6

Heinz body anemia, 140700 (3)- HBA2

Heinz body anemia, 140700 (3)- HBB

Heinz body anemias, alpha-, 140700 (3)- HBA1

HELLP syndrome, maternal, of pregnancy, 609016 (3)- HADHA

Helsmoortel-van der Aa syndrome, 615873 (3)- ADNP

Hemangioblastoma, cerebellar, somatic (3)- VHL

Hemangioma, capillary infantile, somatic, 602089 (3)- FLT4

Hemangioma, capillary infantile, somatic, 602089 (3)- KDR

Hemangioma, capillary infantile, susceptibility to, 602089 (3)- KDR

Hematuria, benign familial, 141200 (3)- COL4A3

Heme oxygenase-1 deficiency, 614034 (3)- HMOX1

Hemochromatosis, 235200 (3)- HFE

Hemochromatosis, type 2A, 602390 (3)- HJV

Hemochromatosis, type 3, 604250 (3)- TFR2

Hemochromatosis, type 4, 606069 (3)- SLC40A1

Hemoglobin H disease, deletional and nondeletional, 613978 (3)- HBA2

Hemoglobin H disease, nondeletional, 613978 (3)- HBA1

Hemoglobin, high altitude adaptation, 609070 (3)- EGLN1

Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)- AK1

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)- GCLC

Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)- GPX1

Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)- GSS

Hemolytic anemia due to hexokinase deficiency, 235700 (3)- HK1

Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)- TPI1

Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3)- CD59

Hemolytic anemia, G6PD deficient (favism), 300908 (3)- G6PD

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)- GPI

Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400 (3)- CFH

Hemolytic uremic syndrome, atypical, susceptibility to, 235400 (3)- CFHR1

Hemolytic uremic syndrome, atypical, susceptibility to, 3, 612923 (3)- CFI

Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924 (3)- CFB

Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925 (3)- C3

Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 (3)- THBD

Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008 (3)- DGKE

Hemophagocytic lymphohistiocytosis, familial, 1 (2)- FHL1

Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)- PRF1

Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)- UNC13D

Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)- STX11

Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)- STXBP2

Hemophilia A, 306700 (3)- F8

Hemophilia B, 306900 (3)- F9

Hemorrhage, intracerebral, susceptibility to, 614519 (3)- COL4A1

Hemorrhage, intracerebral, susceptibility to, 614519 (3)- COL4A2

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)- JAM3

Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)- SERPINA1

Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)- CP

Hepatic adenoma, somatic, 142330 (3)- HNF1A

Hepatic lipase deficiency, 614025 (3)- LIPC

Hepatitis B virus infection, susceptibility to, 610424 (3)- IFNGR1

Hepatitis C virus, resistance to, 609532 (3)- CCR5

Hepatitis C virus, response to therapy of, 609532 (3)- IFNG

Hepatitis C virus, susceptibility to, 609532 (3)- PTPRC

Hepatoblastoma, somatic, 114550 (3)- APC

Hepatocellular carcinoma, childhood type, somatic, 114550 (3)- MET

Hepatocellular carcinoma, somatic, 114550 (3)- CTNNB1

Hepatocellular carcinoma, somatic, 114550 (3)- PIK3CA

Hepatocellular carcinoma, somatic, 114550 (3)- TP53

Hereditary motor and sensory neuropathy VIA, 601152 (3)- MFN2

Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)- TFG

Hereditary motor and sensory neuropathy, type IIc, 606071 (3)- TRPV4

Hereditary persistence of fetal hemoglobin, 141749 (3)- HBB

Hereditary persistence of fetal hemoglobin, 613566 (3)- KLF1

Hermansky-Pudlak syndrome 1, 203300 (3)- HPS1

Hermansky-Pudlak syndrome 2, 608233 (3)- AP3B1

Hermansky-Pudlak syndrome 3, 614072 (3)- HPS3

Hermansky-Pudlak syndrome 4, 614073 (3)- HPS4

Hermansky-Pudlak syndrome 5, 614074 (3)- HPS5

Hermansky-Pudlak syndrome 6, 614075 (3)- HPS6

Hermansky-Pudlak syndrome 7, 614076 (3)- DTNBP1

Hermansky-Pudlak syndrome 8, 614077 (3)- BLOC1S3

Heterotaxy, visceral, 1, X-linked 306955 (3)- ZIC3

Heterotaxy, visceral, 2, autosomal, 605376 (3)- CFC1

Heterotaxy, visceral, 4, autosomal, 613751 (3)- ACVR2B

Heterotaxy, visceral, 5, 270100 (3)- NODAL

Heterotopia, periventricular, 1, 300049 (3)- FLNA

Hex A pseudodeficiency, 272800 (3)- HEXA

High density lipoprotein cholesterol level QTL 10, 143470 (3)- CETP

High density lipoprotein cholesterol level QTL 11, 238600 (3)- LPL

High density lipoprotein cholesterol level QTL 12, 612797 (3)- LIPC

High density lipoprotein cholesterol level QTL 7 (3)- EDN1

High molecular weight kininogen deficiency, 228960 (3)- KNG1

Hirschsprung disease, protection against, 142623 (3)- RET

Hirschsprung disease, susceptibility to, 1, 142623 (3)- RET

Hirschsprung disease, susceptibility to, 2, 600155 (3)- EDNRB

Hirschsprung disease, susceptibility to, 3, 613711 (3)- GDNF

Hirschsprung disease, susceptibility to, 4, 613712 (3)- EDN3

Histidinemia, 235800 (3)- HAL

Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)- CREB1

HIV infection, susceptibility/resistance to (3)- CCR5

HIV-1 viremia, susceptibility to, 609423 (3)- HLA-C

HMG-CoA lyase deficiency, 246450 (3)- HMGCL

HMG-CoA synthase-2 deficiency, 605911 (3)- HMGCS2

Holocarboxylase synthetase deficiency, 253270 (3)- HLCS

Holoprosencephaly 11, 614226 (3)- CDON

Holoprosencephaly 2, 157170 (3)- SIX3

Holoprosencephaly 3, 142945 (3)- SHH

Holoprosencephaly 4, 142946 (3)- TGIF1

Holoprosencephaly 5, 609637 (3)- ZIC2

Holoprosencephaly 7, 610828 (3)- PTCH1

Holoprosencephaly 9, 610829 (3)- GLI2

Holt-Oram syndrome, 142900 (3)- TBX5

Homocysteine, total plasma, elevated (3)- CTH

Homocystinuria due to MTHFR deficiency, 236250 (3)- MTHFR

Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)- CBS

Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)- MTRR

Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)- MTR

HPRT-related gout, 300323 (3)- HPRT1

HSAN2D, autosomal recessive, 243000 (3)- SCN9A

HSD10 mitochondrial disease, 300438 (3)- HSD17B10

Huntington disease, 143100 (3)- HTT

Huntington disease-like 1, 603218 (3)- PRNP

Huntington disease-like 2, 606438 (3)- JPH3

Hutchinson-Gilford progeria, 176670 (3)- LMNA

Hydatidiform mole, recurrent, 2, 614293 (3)- KHDC3L

Hydranencephaly with abnormal genitalia, 300215 (3)- ARX

Hydrocephalus due to aqueductal stenosis, 307000 (3)- L1CAM

Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)- L1CAM

Hydrocephalus with Hirschsprung disease, 307000 (3)- L1CAM

Hydrocephalus, congenital, 1, 236600 (3)- CCDC88C

Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)- MPDZ

Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)- WDR81

Hydrolethalus syndrome, 236680 (3)- HYLS1

Hyperaldosteronism, familial, type II, 605635 (3)- CLCN2

Hyperaldosteronism, familial, type III, 613677 (3)- KCNJ5

Hyperaldosteronism, familial, type IV, 617027 (3)- CACNA1H

Hyperalphalipoproteinemia, 143470 (3)- CETP

Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)- CA5A

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)- CYP21A2

Hyperapobetalipoproteinemia, susceptibility to (3)- PPARA

Hyperbilirubinemia, familial transient neonatal, 237900 (3)- UGT1A1

Hyperbilirubinemia, Rotor type, digenic, 237450 (3)- SLCO1B1

Hyperbiliverdinemia, 614156 (3)- BLVRA

Hypercalcemia, infantile, 1, 143880 (3)- CYP24A1

Hypercalcemia, infantile, 2, 616963 (3)- SLC34A1

Hyperchlorhidrosis, isolated, 143860 (3)- CA12

Hypercholanemia, familial, 607748 (3)- BAAT

Hypercholanemia, familial, 607748 (3)- TJP2

Hypercholesterolemia, familial, 1, 143890 (3)- LDLR

Hypercholesterolemia, familial, 2, 144010 (3)- APOB

Hypercholesterolemia, familial, 3, 603776 (3)- PCSK9

Hypercholesterolemia, familial, 4, 603813 (3)- LDLRAP1

Hypercholesterolemia, familial, modifier of, 143890 (3)- APOA2

Hypercholesterolemia, familial, modifier of, 143890 (3)- GHR

Hyperchylomicronemia, late-onset, 144650 (3)- APOA5

Hyperekplexia 1, 149400 (3)- GLRA1

Hyperekplexia 2, 614619 (3)- GLRB

Hyperekplexia 3, 614618 (3)- SLC6A5

Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)- PDGFRA

Hyperferritinemia-cataract syndrome, 600886 (3)- FTL

Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)- PLAT

Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)- LIAS

Hyperglycinuria, 138500 (3)- SLC36A2

Hyperglycinuria, 138500 (3)- SLC6A19

Hyperglycinuria, 138500 (3)- SLC6A20

Hyper-IgD syndrome, 260920 (3)- MVK

Hyper-IgE recurrent infection syndrome, 147060 (3)- STAT3

Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)- DOCK8

Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)- ABCC8

Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)- KCNJ11

Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)- GCK

Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)- INSR

Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)- SLC16A1

Hyperinsulinism-hyperammonemia syndrome, 606762 (3)- GLUD1

Hyperkalemic periodic paralysis, type 2, 170500 (3)- SCN4A

Hyperlipoproteinemia, type Ib, 207750 (3)- APOC2

Hyperlipoproteinemia, type III, 617347 (3)- APOE

Hyperlysinemia, 238700 (3)- AASS

Hypermanganesemia with dystonia 1, 613280 (3)- SLC30A10

Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)- ADK

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)- AHCY

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)- MAT1A

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)- SLC25A15

Hyperostosis, endosteal, 144750 (3)- LRP5

Hyperoxaluria, primary, type 1, 259900 (3)- AGXT

Hyperoxaluria, primary, type III, 613616 (3)- HOGA1

Hyperparathyroidism 4, 617343 (3)- GCM2

Hyperparathyroidism, familial primary, 145000 (3)- CDC73

Hyperparathyroidism, neonatal, 239200 (3)- CASR

Hyperparathyroidism-jaw tumor syndrome, 145001 (3)- CDC73

Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)- PTS

Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)- GCH1

Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)- QDPR

Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)- PCBD1

Hyperphenylalaninemia, non-PKU mild, 261600 (3)- PAH

Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)- PIGV

Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)- PIGO

Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)- PGAP3

Hyperpigmentation with or without hypopigmentation, 145250 (3)- KITLG

Hyperproinsulinemia, 616214 (3)- INS

Hyperprolinemia, type I, 239500 (3)- PRODH

Hyperprolinemia, type II, 239510 (3)- ALDH4A1

Hyperproreninemia (3)- REN

Hypersensitivity syndrome, carbamazepine-induced, susceptibility to, 608579 (3)- HLA-A

Hypertension, diastolic, resistance to, 608622 (3)- KCNMB1

Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)- NR3C2

Hypertension, essential, 145500 (3)- PTGIS

Hypertension, essential, 145500 (3)- AGTR1

Hypertension, essential, susceptibility to, 145500 (3)- AGT

Hypertension, essential, susceptibility to, 145500 (3)- ECE1

Hypertension, essential, susceptibility to, 145500 (3)- GNB3

Hypertension, pregnancy-induced, 189800 (3)- NOS3

Hypertension, salt-sensitive essential, susceptibility to, 145500 (3)- CYP3A5

Hypertension, susceptibility to, 145500 (3)- NOS3

Hyperthyroidism, familial gestational, 603373 (3)- TSHR

Hyperthyroidism, nonautoimmune, 609152 (3)- TSHR

Hypertrichotic osteochondrodysplasia, 239850 (3)- ABCC9

Hypertriglyceridemia, susceptibility to, 145750 (3)- APOA5

Hypertriglyceridemia, transient infantile, 614480 (3)- GPD1

Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)- HPGD

Hypertrypsinemia, neonatal (3)- CFTR

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)- SARS2

Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)- UMOD

Hyperuricemic nephropathy, familial juvenile 2, 613092 (3)- REN

Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)- CYP11B2

Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)- CYP11B2

Hypoalphalipoproteinemia, 604091 (3)- APOA1

Hypobetalipoproteinemia, 615558 (3)- APOB

Hypobetalipoproteinemia, familial, 2, 605019 (3)- ANGPTL3

Hypocalcemia, autosomal dominant 2, 615361 (3)- GNA11

Hypocalcemia, autosomal dominant, 601198 (3)- CASR

Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)- CASR

Hypocalciuric hypercalcemia, type I, 145980 (3)- CASR

Hypocalciuric hypercalcemia, type II, 145981 (3)- GNA11

Hypocalciuric hypercalcemia, type III, 600740 (3)- AP2S1

Hypoceruloplasminemia, hereditary, 604290 (3)- CP

Hypochondroplasia, 146000 (3)- FGFR3

Hypodysfibrinogenemia, 616004 (3)- FGG

Hypodysfibrinogenemia, congenital, 616004 (3)- FGA

Hypofibrinogenemia, congenital, 202400 (3)- FGB

Hypofibrinogenemia, congenital, 202400 (3)- FGG

Hypoglycemia of infancy, leucine-sensitive, 240800 (3)- ABCC8

Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)- TAC3

Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)- TACR3

Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)- WDR11

Hypogonadotropic hypogonadism 15 with or without anosmia, 614880 (3)- HS6ST1

Hypogonadotropic hypogonadism 16 with or without anosmia, 614897 (3)- SEMA3A

Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)- FGFR1

Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)- LHB

Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)- FSHB

Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)- PROKR2

Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)- PROK2

Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)- CHD7

Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)- FGF8

Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)- GNRHR

Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)- KISS1R

Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)- NSMF

Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)- AKT2

Hypokalemic periodic paralysis, type 1, 170400 (3)- CACNA1S

Hypokalemic periodic paralysis, type 2, 613345 (3)- SCN4A

Hypomagnesemia 1, intestinal, 602014 (3)- TRPM6

Hypomagnesemia 4, renal, 611718 (3)- EGF

Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)- CLDN19

Hypomagnesemia 6, renal, 613882 (3)- CNNM2

Hypomagnesemia, seizures, and mental retardation, 616418 (3)- CNNM2

Hypomyelinating neuropathy, congenital, 1, 605253 (3)- EGR2

Hypomyelinating neuropathy, congenital, 2, 618184 (3)- MPZ

Hypoparathyroidism, autosomal dominant, 146200 (3)- PTH

Hypoparathyroidism, autosomal recessive, 146200 (3)- PTH

Hypoparathyroidism, familial isolated, 146200 (3)- GCM2

Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)- GATA3

Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)- TBCE

Hypophosphatasia, adult, 146300 (3)- ALPL

Hypophosphatasia, childhood, 241510 (3)- ALPL

Hypophosphatasia, infantile, 241500 (3)- ALPL

Hypophosphatemic rickets with hypercalciuria, 241530 (3)- SLC34A3

Hypophosphatemic rickets, 300554 (3)- CLCN5

Hypophosphatemic rickets, AR, 241520 (3)- DMP1

Hypophosphatemic rickets, autosomal dominant, 193100 (3)- FGF23

Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)- ENPP1

Hypophosphatemic rickets, X-linked dominant, 307800 (3)- PHEX

Hypoplastic left heart syndrome 1, 241550 (3)- GJA1

Hypoplastic left heart syndrome 2, 614435 (3)- NKX2-5

Hypoprothrombinemia, 613679 (3)- F2

Hypospadias 1, X-linked, 300633 (3)- AR

Hypospadias 2, X-linked, 300758 (3)- MAMLD1

Hypothalamic hamartomas, somatic, 241800 (3)- GLI3

Hypothyroidism, central, and testicular enlargement, 300888 (3)- IGSF1

Hypothyroidism, congenital nongoitrous, 5, 225250 (3)- NKX2-5

Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)- PAX8

Hypothyroidism, congenital, nongoitrous 4, 275100 (3)- TSHB

Hypothyroidism, congenital, nongoitrous, 1 275200 (3)- TSHR

Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)- THRA

Hypotrichosis 4, 146550 (3)- HR

Hypotrichosis 8, 278150 (3)- LPAR6

Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)- CDH3

Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)- SOX18

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3)- SOX18

Hypouricemia, renal, 2, 612076 (3)- SLC2A9

Hypouricemia, renal, 220150 (3)- SLC22A12

Hystrix-like ichthyosis with deafness, 602540 (3)- GJB2

I

Ichthyosis bullosa of Siemens, 146800 (3)- KRT2

Ichthyosis histrix, Curth-Macklin type, 146590 (3)- KRT1

Ichthyosis prematurity syndrome, 608649 (3)- SLC27A4

Ichthyosis vulgaris, 146700 (3)- FLG

Ichthyosis with confetti, 609165 (3)- KRT10

Ichthyosis, congenital, autosomal recessive 1, 242300 (3)- TGM1

Ichthyosis, congenital, autosomal recessive 10, 615024 (3)- PNPLA1

Ichthyosis, congenital, autosomal recessive 14, 617571 (3)- SULT2B1

Ichthyosis, congenital, autosomal recessive 2, 242100 (3)- ALOX12B

Ichthyosis, congenital, autosomal recessive 3, 606545 (3)- ALOXE3

Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)- ABCA12

Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)- ABCA12

Ichthyosis, congenital, autosomal recessive 5, 604777 (3)- CYP4F22

Ichthyosis, congenital, autosomal recessive 6, 612281 (3)- NIPAL4

Ichthyosis, congenital, autosomal recessive 8, 613943 (3)- LIPN

Ichthyosis, congenital, autosomal recessive 9, 615023 (3)- CERS3

Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)- KRT1

Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)- KRT10

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)- CLDN1

Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)- ELOVL4

Ichthyosis, X-linked, 308100 (3)- STS

IMAGE syndrome, 614732 (3)- CDKN1C

IMAGE-I syndrome, 618336 (3)- POLE

Iminoglycinuria, digenic, 242600 (3)- SLC36A2

Iminoglycinuria, digenic, 242600 (3)- SLC6A19

Iminoglycinuria, digenic, 242600 (3)- SLC6A20

Immunodeficiency 10, 612783 (3)- STIM1

Immunodeficiency 14, 615513 (3)- PIK3CD

Immunodeficiency 18, 615615 (3)- CD3E

Immunodeficiency 18, SCID variant, 615615 (3)- CD3E

Immunodeficiency 19, 615617 (3)- CD3D

Immunodeficiency 21, 614172 (3)- GATA2

Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)- IFNGR1

Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)- IFNGR1

Immunodeficiency 28, mycobacteriosis, 614889 (3)- IFNGR2

Immunodeficiency 29, mycobacteriosis, 614890 (3)- IL12B

Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3)- STAT1

Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)- STAT1

Immunodeficiency 31C, autosomal dominant, 614162 (3)- STAT1

Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3)- IRF8

Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3)- IRF8

Immunodeficiency 33, 300636 (3)- IKBKG

Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3)- CYBB

Immunodeficiency 36, 616005 (3)- PIK3R1

Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)- IL2RA

Immunodeficiency 43, 241600 (3)- B2M

Immunodeficiency 48, 269840 (3)- ZAP70

Immunodeficiency 54, 609981 (3)- MCM4

Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)- PNP

Immunodeficiency, common variable, 1, 607594 (3)- ICOS

Immunodeficiency, common variable, 12, 616576 (3)- NFKB1

Immunodeficiency, common variable, 13, 616873 (3)- IKZF1

Immunodeficiency, common variable, 2, 240500 (3)- TNFRSF13B

Immunodeficiency, common variable, 7, 614699 (3)- CR2

Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)- LRBA

Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3)- NFE2L2

Immunodeficiency, isolated, 300584 (3)- IKBKG

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)- MAGT1

Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)- DNMT3B

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)- FOXP3

Immunoglobulin A deficiency 2, 609529 (3)- TNFRSF13B

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)- VCP

Incontinentia pigmenti, 308300 (3)- IKBKG

Increased responsiveness to growth hormone, 604271 (3)- GHR

Infantile cerebellar-retinal degeneration, 614559 (3)- ACO2

Infantile liver failure syndrome 2, 616483 (3)- NBAS

Infantile neuroaxonal dystrophy 1, 256600 (3)- PLA2G6

Inflammatory bowel disease 13, 612244 (3)- ABCB1

Influenza, severe, susceptibility to, 614680 (3)- IFITM3

Insensitivity to pain, congenital, 243000 (3)- SCN9A

Insensitivity to pain, congenital, with anhidrosis, 256800 (3)- NTRK1

Insomnia, fatal familial, 600072 (3)- PRNP

Insulin resistance, severe, digenic, 125853 (3)- PPP1R3A

Insulin resistance, severe, digenic, 604367 (3)- PPARG

Insulin-like growth factor I, resistance to, 270450 (3)- IGF1R

Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)- SCAPER

Intellectual developmental disorder with autism and speech delay, 606053 (3)- TBR1

Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)- RORA

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)- ITGA3

Intervertebral disc disease, susceptibility to, 603932 (3)- COL9A3

Intestinal pseudoobstruction, neuronal, 300048 (3)- FLNA

Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, 108010 (3)- IL6

Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)- IRAK4

Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)- IKBKG

IRAK4 deficiency, 607676 (3)- IRAK4

Iron-refractory iron deficiency anemia, 206200 (3)- TMPRSS6

Ischemic stroke, susceptibility to, 601367 (3)- NOS3

Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 (3)- TBX4

Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)- ACAD8

Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)- BTK

Isovaleric acidemia, 243500 (3)- IVD

IVIC syndrome, 147750 (3)- SALL4

J

Jackson-Weiss syndrome, 123150 (3)- FGFR1

Jackson-Weiss syndrome, 123150 (3)- FGFR2

Jalili syndrome, 217080 (3)- CNNM4

Jansen de Vries syndrome, 617450 (3)- PPM1D

Jawad syndrome, 251255 (3)- RBBP8

Jervell and Lange-Nielsen syndrome 2, 612347 (3)- KCNE1

Jervell and Lange-Nielsen syndrome, 220400 (3)- KCNQ1

Joint laxity, short stature, and myopia, 617662 (3)- GZF1

Joubert syndrome 1, 213300 (3)- INPP5E

Joubert syndrome 10, 300804 (3)- OFD1

Joubert syndrome 12, 200990 (3)- KIF7

Joubert syndrome 14, 614424 (3)- TMEM237

Joubert syndrome 15, 614464 (3)- CEP41

Joubert syndrome 16, 614465 (3)- TMEM138

Joubert syndrome 17, 614615 (3)- CPLANE1

Joubert syndrome 19, 614844 (3)- ZNF423

Joubert syndrome 2, 608091 (3)- TMEM216

Joubert syndrome 28, 617121 (3)- MKS1

Joubert syndrome 3, 608629 (3)- AHI1

Joubert syndrome 32, 617757 (3)- SUFU

Joubert syndrome 4, 609583 (3)- NPHP1

Joubert syndrome 5, 610188 (3)- CEP290

Joubert syndrome 6, 610688 (3)- TMEM67

Joubert syndrome 7, 611560 (3)- RPGRIP1L

Joubert syndrome 8, 612291 (3)- ARL13B

Joubert syndrome 9, 612285 (3)- CC2D2A

Junior blood group system, 614490 (3)- ABCG2

Juvenile polyposis syndrome, infantile form, 174900 (3)- BMPR1A

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)- SMAD4

K

Kabuki syndrome 1, 147920 (3)- KMT2D

Kahrizi syndrome, 612713 (3)- SRD5A3

Kanzaki disease, 609242 (3)- NAGA

Kaposi sarcoma, susceptibility to, 148000 (3)- IL6

KBG syndrome, 148050 (3)- ANKRD11

Kenny-Caffey syndrome, type 1, 244460 (3)- TBCE

Keratitis, 148190 (3)- PAX6

Keratitis-ichthyosis-deafness syndrome, 148210 (3)- GJB2

Keratoconus 1, 148300 (3)- VSX1

Keratoderma, palmoplantar, with deafness, 148350 (3)- GJB2

Keratoendothelitis fugax hereditaria, 148200 (3)- NLRP3

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)- POMP

Keratosis palmoplantaris striata II, 612908 (3)- DSP

Keratosis palmoplantaris striata III, 607654 (3)- KRT1

Keratosis, seborrheic, somatic, 182000 (3)- PIK3CA

Kindler syndrome, 173650 (3)- FERMT1

King-Denborough syndrome, 145600 (3)- RYR1

Kininogen deficiency, 228960 (3)- KNG1

Kleefstra syndrome 1, 610253 (3)- EHMT1

Kleefstra syndrome 2, 617768 (3)- KMT2C

Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)- GDF6

Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)- GDF3

Kniest dysplasia, 156550 (3)- COL2A1

Knobloch syndrome, type 1, 267750 (3)- COL18A1

Kohlschutter-Tonz syndrome, 226750 (3)- ROGDI

Koolen-De Vries syndrome, 610443 (3)- KANSL1

Kosaki overgrowth syndrome, 616592 (3)- PDGFRB

Kowarski syndrome, 262650 (3)- GH1

Krabbe disease, 245200 (3)- GALC

Krabbe disease, atypical, 611722 (3)- PSAP

Kufor-Rakeb syndrome, 606693 (3)- ATP13A2

Kuru, susceptibility to, 245300 (3)- PRNP

L

L-2-hydroxyglutaric aciduria, 236792 (3)- L2HGDH

Lactase persistence/nonpersistence, 223100 (3)- MCM6

Lactate dehydrogenase-B deficiency, 614128 (3)- LDHB

Lacticacidemia due to PDX1 deficiency, 245349 (3)- PDHX

LADD syndrome, 149730 (3)- FGF10

LADD syndrome, 149730 (3)- FGFR2

LADD syndrome, 149730 (3)- FGFR3

Laing distal myopathy, 160500 (3)- MYH7

Langer mesomelic dysplasia, 249700 (3)- SHOX

Laron dwarfism, 262500 (3)- GHR

Laryngoonychocutaneous syndrome, 245660 (3)- LAMA3

Lateral meningocele syndrome, 130720 (3)- NOTCH3

LCHAD deficiency, 609016 (3)- HADHA

LDL cholesterol level QTL2, 143890 (3)- LDLR

Lead poisoning, susceptibility to, 612740 (3)- ALAD

Leber congenital amaurosis 1, 204000 (3)- GUCY2D

Leber congenital amaurosis 10, 611755 (3)- CEP290

Leber congenital amaurosis 11, 613837 (3)- IMPDH1

Leber congenital amaurosis 12, 610612 (3)- RD3

Leber congenital amaurosis 13, 612712 (3)- RDH12

Leber congenital amaurosis 14, 613341 (3)- LRAT

Leber congenital amaurosis 15, 613843 (3)- TULP1

Leber congenital amaurosis 16, 614186 (3)- KCNJ13

Leber congenital amaurosis 17, 615360 (3)- GDF6

Leber congenital amaurosis 18, 608133 (3)- PRPH2

Leber congenital amaurosis 2, 204100 (3)- RPE65

Leber congenital amaurosis 3, 604232 (3)- SPATA7

Leber congenital amaurosis 4, 604393 (3)- AIPL1

Leber congenital amaurosis 5, 604537 (3)- LCA5

Leber congenital amaurosis 6, 613826 (3)- RPGRIP1

Leber congenital amaurosis 7, 613829 (3)- CRX

Leber congenital amaurosis 8, 613835 (3)- CRB1

Leber congenital amaurosis 9, 608553 (3)- NMNAT1

Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)- DTNA

Left ventricular noncompaction 10, 615396 (3)- MYBPC3

Left ventricular noncompaction 3, 601493 (3)- LDB3

Left ventricular noncompaction 4, 613424 (3)- ACTC1

Left ventricular noncompaction 5, 613426 (3)- MYH7

Left ventricular noncompaction 6, 601494 (3)- TNNT2

Left ventricular noncompaction 7, 615092 (3)- MIB1

Left ventricular noncompaction 9, 611878 (3)- TPM1

Legg-Calve-Perthes disease, 150600 (3)- COL2A1

Legius syndrome, 611431 (3)- SPRED1

Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)- COX15

Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)- COX10

Leigh syndrome, 256000 (3)- BCS1L

Leigh syndrome, 256000 (3)- SDHA

Leigh syndrome, due to COX IV deficiency, 256000 (3)- SURF1

Leigh syndrome, French-Canadian type, 220111 (3)- LRPPRC

Leiomyoma, uterine, somatic, 150699 (1)- HMGA2

Leiomyomatosis and renal cell cancer, 150800 (3)- FH

LEOPARD syndrome 1, 151100 (3)- PTPN11

LEOPARD syndrome 2, 611554 (3)- RAF1

LEOPARD syndrome 3, 613707 (3)- BRAF

Leprechaunism, 246200 (3)- INSR

Leri-Weill dyschondrosteosis, 127300 (3)- SHOX

Lesch-Nyhan syndrome, 300322 (3)- HPRT1

Lethal congenital contractural syndrome 3, 611369 (3)- PIP5K1C

Lethal congenital contracture syndrome 4, 614915 (3)- MYBPC1

Lethal congenital contracture syndrome 5, 615368 (3)- DNM2

Leukemia, acute lymphoblastic, 613065 (3)- NBN

Leukemia, acute lymphoblastic, somatic, 613065 (3)- FLT3

Leukemia, acute lymphoblastic, susceptibility to, 3, 615545 (3)- PAX5

Leukemia, acute myeloid, 601626 (1)- NSD1

Leukemia, acute myeloid, 601626 (3)- KIT

Leukemia, acute myeloid, 601626 (3)- KRAS

Leukemia, acute myeloid, 601626 (3)- RUNX1

Leukemia, acute myeloid, 601626 (3)- TERT

Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)- FLT3

Leukemia, acute myeloid, somatic, 601626 (3)- CEBPA

Leukemia, acute myeloid, somatic, 601626 (3)- ETV6

Leukemia, acute myeloid, somatic, 601626 (3)- FLT3

Leukemia, acute myeloid, somatic, 601626 (3)- JAK2

Leukemia, acute myeloid, somatic, 601626 (3)- NPM1

Leukemia, acute myeloid, susceptibility to, 601626 (3)- GATA2

Leukemia, acute myeloid, with eosinophilia (1)- ABL2

Leukemia, acute promyelocytic, PL2F/RARA type (3)- ZBTB16

Leukemia, acute promyelocytic, somatic, 102578 (3)- STAT5B

Leukemia, juvenile myelomonocytic, 607785 (3)- NF1

Leukemia, juvenile myelomonocytic, somatic, 607785 (3)- PTPN11

Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3)- GATA1

Leukemia, myeloid/lymphoid or mixed-lineage (2)- KMT2A

Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)- ABL1

Leukemia, post-chemotherapy, susceptibility to (3)- NQO1

Leukemia/lymphoma, B-cell, 2 (3)- BCL2

Leukocyte adhesion deficiency, type III, 612840 (3)- FERMT3

Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)- LMNB1

Leukodystrophy, hypomyelinating, 2, 608804 (3)- GJC2

Leukodystrophy, hypomyelinating, 3, 260600 (3)- AIMP1

Leukodystrophy, hypomyelinating, 4, 612233 (3)- HSPD1

Leukodystrophy, hypomyelinating, 5, 610532 (3)- FAM126A

Leukodystrophy, hypomyelinating, 6, 612438 (3)- TUBB4A

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)- POLR3A

Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)- POLR3B

Leukoencephalopathy with ataxia, 615651 (3)- CLCN2

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)- DARS2

Leukoencephalopathy with vanishing white matter, 603896 (3)- EIF2B1

Leukoencephalopathy with vanishing white matter, 603896 (3)- EIF2B2

Leukoencephalopathy with vanishing white matter, 603896 (3)- EIF2B3

Leukoencephalopathy with vanishing white matter, 603896 (3)- EIF2B4

Leukoencephalopathy with vanishing white matter, 603896 (3)- EIF2B5

Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)- RNASET2

Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)- CSF1R

Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)- AARS2

Lewy body dementia, susceptibility to, 127750 (3)- GBA

Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)- LHCGR

Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)- LHCGR

Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)- LHCGR

L-ferritin deficiency, dominant and recessive, 615604 (3)- FTL

Lhermitte-Duclos syndrome, 158350 (3)- PTEN

Liddle syndrome 1, 177200 (3)- SCNN1B

Liddle syndrome 2, 618114 (3)- SCNN1G

Li-Fraumeni syndrome, 151623 (3)- TP53

Li-Fraumeni syndrome, 609265 (3)- CHEK2

LIG4 syndrome, 606593 (3)- LIG4

Linear skin defects with multiple congenital anomalies 1, 309801 (3)- HCCS

Lipodystrophy, congenital generalized, type 1, 608594 (3)- AGPAT2

Lipodystrophy, congenital generalized, type 2, 269700 (3)- BSCL2

Lipodystrophy, congenital generalized, type 4, 613327 (3)- CAVIN1

Lipodystrophy, familial partial, type 2, 151660 (3)- LMNA

Lipodystrophy, familial partial, type 3, 604367 (3)- PPARG

Lipodystrophy, familial partial, type 4, 613877 (3)- PLIN1

Lipodystrophy, familial partial, type 6, 615980 (3)- LIPE

Lipodystrophy, familial partial, type 7, 606721 (3)- CAV1

Lipoid adrenal hyperplasia, 201710 (3)- STAR

Lipoma, somatic (3)- MEN1

Lipoprotein glomerulopathy, 611771 (3)- APOE

Lipoprotein lipase deficiency, 238600 (3)- LPL

Lissencephaly 1, 607432 (3)- PAFAH1B1

Lissencephaly 2 (Norman-Roberts type), 257320 (3)- RELN

Lissencephaly 3, 611603 (3)- TUBA1A

Lissencephaly 4 (with microcephaly), 614019 (3)- NDE1

Lissencephaly 5, 615191 (3)- LAMB1

Lissencephaly, X-linked 2, 300215 (3)- ARX

Lissencephaly, X-linked, 300067 (3)- DCX

Loeys-Dietz syndrome 1, 609192 (3)- TGFBR1

Loeys-Dietz syndrome 2, 610168 (3)- TGFBR2

Loeys-Dietz syndrome 3, 613795 (3)- SMAD3

Loeys-Dietz syndrome 4, 614816 (3)- TGFB2

Loeys-Dietz syndrome 5, 615582 (3)- TGFB3

Long QT syndrome 1, 192500 (3)- KCNQ1

Long QT syndrome 1, acquired, susceptibility to, 192500 (3)- KCNQ1

Long QT syndrome 12, 612955 (3)- SNTA1

Long QT syndrome 13, 613485 (3)- KCNJ5

Long QT syndrome 14, 616247 (3)- CALM1

Long QT syndrome 15, 616249 (3)- CALM2

Long QT syndrome 2, 613688 (3)- KCNH2

Long QT syndrome 2, acquired, susceptibility to, 613688 (3)- KCNH2

Long QT syndrome 4, 600919 (3)- ANK2

Long QT syndrome 5, 613695 (3)- KCNE1

Long QT syndrome 6, 613693 (3)- KCNE2

Long QT syndrome 8, 618447 (3)- CACNA1C

Long QT syndrome 9, 611818 (3)- CAV3

Long QT syndrome-10, 611819 (3)- SCN4B

Long QT syndrome-3, 603830 (3)- SCN5A

Lopes-Maciel-Rodan syndrome, 617435 (3)- HTT

Low density lipoprotein cholesterol level QTL 1, 603776 (3)- PCSK9

Low density lipoprotein cholesterol level QTL 3 (3)- HMGCR

Low density lipoprotein cholesterol level QTL6, 613589 (3)- SORT1

Low renin hypertension, susceptibility to (3)- CYP11B2

Lowe syndrome, 309000 (3)- OCRL

LPA deficiency, congenital (3)- LPA

Lujan-Fryns syndrome, 309520 (3)- MED12

Lumbar disc herniation, susceptibility to, 603932 (3)- COL11A1

Lung cancer, somatic, 211980 (3)- KRAS

Lung cancer, susceptibility to, 211980 (3)- FASLG

Luscan-Lumish syndrome, 616831 (3)- SETD2

Luteinizing hormone resistance, female, 238320 (3)- LHCGR

Lymphangioleiomyomatosis, 606690 (3)- TSC1

Lymphangioleiomyomatosis, somatic, 606690 (3)- TSC2

Lymphatic malformation 1, 153100 (3)- FLT4

Lymphatic malformation 3, 613480 (3)- GJC2

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)- FOXC2

Lymphedema-distichiasis syndrome, 153400 (3)- FOXC2

Lymphoma, B-cell (2)- BCL6

Lymphoma, B-cell non-Hodgkin, somatic (3)- ATM

Lymphoma, mantle cell, somatic (3)- ATM

Lymphoma, non-Hodgkin, 605027 (3)- PRF1

Lymphoma, non-Hodgkin, somatic, 605027 (3)- RAD54L

Lymphoproliferative syndrome 1, 613011 (3)- ITK

Lymphoproliferative syndrome 2, 615122 (3)- CD27

Lymphoproliferative syndrome, X-linked, 1, 308240 (3)- SH2D1A

Lymphoproliferative syndrome, X-linked, 2, 300635 (3)- XIAP

Lysinuric protein intolerance, 222700 (3)- SLC7A7

Lysyl hydroxylase 3 deficiency, 612394 (3)- PLOD3

M

Machado-Joseph disease, 109150 (3)- ATXN3

Macrocephaly/autism syndrome, 605309 (3)- PTEN

Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)- RPS14

Macrodactyly, somatic, 155500 (3)- PIK3CA

Macroglobulinemia, Waldenstrom, somatic, 153600 (3)- MYD88

Macrothrombocytopenia (1)- CD36

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)- MYH9

Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)- TUBB1

Macular corneal dystrophy, 217800 (3)- CHST6

Macular degeneration, age-related, 1, 603075 (3)- HMCN1

Macular degeneration, age-related, 11, 611953 (3)- CST3

Macular degeneration, age-related, 13, susceptibility to, 615439 (3)- CFI

Macular degeneration, age-related, 14, reduced risk of, 615489 (3)- CFB

Macular degeneration, age-related, 2, 153800 (3)- ABCA4

Macular degeneration, age-related, 3, 608895 (3)- FBLN5

Macular degeneration, age-related, 4, 610698 (3)- CFH

Macular degeneration, age-related, 7, 610149 (3)- HTRA1

Macular degeneration, age-related, 9, 611378 (3)- C3

Macular degeneration, age-related, neovascular type, 610149 (3)- HTRA1

Macular degeneration, age-related, reduced risk of, 603075 (3)- CFHR1

Macular degeneration, early-onset, 616118 (3)- FBN2

Macular degeneration, juvenile, 248200 (3)- CNGB3

Macular degeneration, X-linked atrophic, 300834 (3)- RPGR

Macular dystrophy with central cone involvement, 616170 (3)- MFSD8

Macular dystrophy, patterned, 1, 169150 (3)- PRPH2

Macular dystrophy, retinal, 2, 608051 (3)- PROM1

Macular dystrophy, vitelliform, 2, 153700 (3)- BEST1

Macular dystrophy, vitelliform, 3, 608161 (3)- PRPH2

Macular dystrophy, vitelliform, 5, 616152 (3)- IMPG2

Major depressive disorder, response to citalopram therapy in, 608516 (3)- HTR2A

Malaria, cerebral, reduced risk of, 611162 (3)- CD36

Malaria, cerebral, susceptibility to, 611162 (3)- CD36

Malaria, cerebral, susceptibility to, 611162 (3)- TNF

Malaria, resistance to, 611162 (3)- GYPA

Malaria, resistance to, 611162 (3)- GYPB

Malaria, resistance to, 611162 (3)- HBB

Malaria, resistance to, 611162 (3)- SLC4A1

Malaria, severe, resistance to, 611162 (3)- CR1

Malignant hyperthermia susceptibility 1, 145600 (3)- RYR1

Malignant hyperthermia susceptibility 5, 601887 (3)- CACNA1S

Malonyl-CoA decarboxylase deficiency, 248360 (3)- MLYCD

Malouf syndrome, 212112 (3)- LMNA

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)- POLD1

Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)- ZMPSTE24

Mandibuloacral dysplasia, 248370 (3)- LMNA

Mannosidosis, alpha-, types I and II, 248500 (3)- MAN2B1

Mannosidosis, beta, 248510 (3)- MANBA

Maple syrup urine disease, type Ia, 248600 (3)- BCKDHA

Maple syrup urine disease, type Ib, 248600 (3)- BCKDHB

Maple syrup urine disease, type II, 248600 (3)- DBT

Marfan lipodystrophy syndrome, 616914 (3)- FBN1

Marfan syndrome, 154700 (3)- FBN1

Marinesco-Sjogren syndrome, 248800 (3)- SIL1

Marshall syndrome, 154780 (3)- COL11A1

Marshall-Smith syndrome, 602535 (3)- NFIX

Martsolf syndrome, 212720 (3)- RAB3GAP2

MASA syndrome, 303350 (3)- L1CAM

MASS syndrome, 604308 (3)- FBN1

Mastocytosis, cutaneous, 154800 (3)- KIT

Mastocytosis, systemic, somatic, 154800 (3)- KIT

Maturity-onset diabetes of the young 6, 606394 (3)- NEUROD1

Maturity-onset diabetes of the young, type 10, 613370 (3)- INS

Maturity-onset diabetes of the young, type 11, 613375 (3)- BLK

Maturity-onset diabetes of the young, type 13, 616329 (3)- KCNJ11

Maturity-onset diabetes of the young, type IX, 612225 (3)- PAX4

Maturity-onset diabetes of the young, type VII, 610508 (3)- KLF11

Maturity-onset diabetes of the young, type VIII, 609812 (3)- CEL

McArdle disease, 232600 (3)- PYGM

McCune-Albright syndrome, somatic, mosaic 174800 (3)- GNAS

McKusick-Kaufman syndrome, 236700 (3)- MKKS

McLeod syndrome with or without chronic granulomatous disease, 300842 (3)- XK

Meacham syndrome, 608978 (3)- WT1

Meckel syndrome 1, 249000 (3)- MKS1

Meckel syndrome 2, 603194 (3)- TMEM216

Meckel syndrome 3, 607361 (3)- TMEM67

Meckel syndrome 4, 611134 (3)- CEP290

Meckel syndrome 5, 611561 (3)- RPGRIP1L

Meckel syndrome 6, 612284 (3)- CC2D2A

Meckel syndrome 7, 267010 (3)- NPHP3

Meconium ileus, 614665 (3)- GUCY2C

Medullary cystic kidney disease 2, 603860 (3)- UMOD

Medullary thyroid carcinoma, 155240 (3)- RET

Medullary thyroid carcinoma, familial, 155240 (3)- NTRK1

Medulloblastoma, 155255 (3)- BRCA2

Medulloblastoma, desmoplastic, 155255 (3)- SUFU

Medulloblastoma, somatic, 155255 (3)- CTNNB1

Medulloblastoma, somatic, 155255 (3)- PTCH2

Meesmann corneal dystrophy, 122100 (3)- KRT12

Meesmann corneal dystrophy, 122100 (3)- KRT3

Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)- HEPACAM

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)- HEPACAM

Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)- MLC1

Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)- PIK3CA

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)- PIK3R2

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3)- AKT3

Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3)- DHFR

Megaloblastic anemia-1, Finnish type, 261100 (3)- CUBN

Megaloblastic anemia-1, Norwegian type, 261100 (3)- AMN

Megalocornea 1, X-linked 309300 (3)- CHRDL1

Meier-Gorlin syndrome 1, 224690 (3)- ORC1

Meier-Gorlin syndrome 2, 613800 (3)- ORC4

Meier-Gorlin syndrome 3, 613803 (3)- ORC6

Meier-Gorlin syndrome 4, 613804 (3)- CDT1

Melanocytic nevus syndrome, congenital, somatic, 137550 (3)- NRAS

Melanoma and neural system tumor syndrome, 155755 (3)- CDKN2A

Melanoma, cutaneous malignant, 2, 155601 (3)- CDKN2A

Melanoma, cutaneous malignant, 3, 609048 (3)- CDK4

Melanoma, cutaneous malignant, 5, 613099 (3)- MC1R

Melanoma, cutaneous malignant, 9, 615134 (3)- TERT

Melanoma, cutaneous malignant, susceptibility to, 10, 615848 (3)- POT1

Melanoma, cutaneous malignant, susceptibility to, 8, 601800 (3)- TYR

Melanoma, cutaneous malignant, susceptibility to, 8, 614456 (3)- MITF

Melanoma, malignant, somatic (3)- BRAF

Melanoma, malignant, somatic (3)- STK11

Melnick-Needles syndrome, 309350 (3)- FLNA

Meningioma, 607174 (3)- PTEN

Meningioma, familial, susceptibility to, 607174 (3)- SMARCE1

Meningioma, familial, susceptibility to, 607174 (3)- SUFU

Meningioma, NF2-related, somatic, 607174 (3)- NF2

Menke-Hennekam syndrome 1, 618332 (3)- CREBBP

Menke-Hennekam syndrome 2, 618333 (3)- EP300

Menkes disease, 309400 (3)- ATP7A

Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)- MED13L

Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)- CASK

Mental retardation syndrome, X-linked, Siderius type, 300263 (3)- PHF8

Mental retardation with language impairment and with or without autistic features, 613670 (3)- FOXP1

Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)- SOBP

Mental retardation, autosomal dominant 1, 156200 (3)- MBD5

Mental retardation, autosomal dominant 13, 614563 (3)- DYNC1H1

Mental retardation, autosomal dominant 18, 615074 (3)- GATAD2B

Mental retardation, autosomal dominant 23, 615761 (3)- SETD5

Mental retardation, autosomal dominant 24, 615828 (3)- DEAF1

Mental retardation, autosomal dominant 29, 616078 (3)- SETBP1

Mental retardation, autosomal dominant 3, 612580 (3)- CDH15

Mental retardation, autosomal dominant 33, 616311 (3)- DPP6

Mental retardation, autosomal dominant 36, 616362 (3)- PPP2R1A

Mental retardation, autosomal dominant 39, 616521 (3)- MYT1L

Mental retardation, autosomal dominant 41 , 616944 (3)- TBL1XR1

Mental retardation, autosomal dominant 45, 617600 (3)- CIC

Mental retardation, autosomal dominant 48, 617751 (3)- RAC1

Mental retardation, autosomal dominant 5, 612621 (3)- SYNGAP1

Mental retardation, autosomal dominant 51, 617788 (3)- KMT5B

Mental retardation, autosomal dominant 52, 617796 (3)- ASH1L

Mental retardation, autosomal dominant 6, 613970 (3)- GRIN2B

Mental retardation, autosomal dominant 7, 614104 (3)- DYRK1A

Mental retardation, autosomal dominant 9, 614255 (3)- KIF1A

Mental retardation, autosomal recessive 1, 249500 (3)- PRSS12

Mental retardation, autosomal recessive 12, 611090 (3)- ST3GAL3

Mental retardation, autosomal recessive 13, 613192 (3)- TRAPPC9

Mental retardation, autosomal recessive 14, 614020 (3)- TECR

Mental retardation, autosomal recessive 15, 614202 (3)- MAN1B1

Mental retardation, autosomal recessive 18, 614249 (3)- MED23

Mental retardation, autosomal recessive 2, 607417 (3)- CRBN

Mental retardation, autosomal recessive 27, 614340 (3)- LINS1

Mental retardation, autosomal recessive 3, 608443 (3)- CC2D1A

Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3)- CRADD

Mental retardation, autosomal recessive 38, 615516 (3)- HERC2

Mental retardation, autosomal recessive 39, 615541 (3)- TTI2

Mental retardation, autosomal recessive 40, 615599 (3)- TAF2

Mental retardation, autosomal recessive 42, 615802 (3)- PGAP1

Mental retardation, autosomal recessive 46, 616116 (3)- NDST1

Mental retardation, autosomal recessive 48, 616269 (3)- SLC6A17

Mental retardation, autosomal recessive 5, 611091 (3)- NSUN2

Mental retardation, autosomal recessive 58, 617270 (3)- ELP2

Mental retardation, autosomal recessive 59, 617323 (3)- IMPA1

Mental retardation, autosomal recessive 65, 618109 (3)- KDM5B

Mental retardation, autosomal recessive 68, 618302 (3)- TRMT1

Mental retardation, autosomal recessive 7, 611093 (3)- TUSC3

Mental retardation, autosomal recessive, 6, 611092 (3)- GRIK2

Mental retardation, FRA12A type, 136630 (3)- DIP2B

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3)- MEF2C

Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)- INPP5E

Mental retardation, with or without nystagmus, 300422 (3)- CASK

Mental retardation, X-linked 1/78, 309530 (3)- IQSEC2

Mental retardation, X-linked 19, 300844 (3)- RPS6KA3

Mental retardation, X-linked 21/34, 300143 (3)- IL1RAPL1

Mental retardation, X-linked 29 and others, 300419 (3)- ARX

Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)- HCFC1

Mental retardation, X-linked 30/47, 300558 (3)- PAK3

Mental retardation, X-linked 41, 300849 (3)- GDI1

Mental retardation, X-linked 58, 300210 (3)- TSPAN7

Mental retardation, X-linked 63, 300387 (3)- ACSL4

Mental retardation, X-linked 72, 300271 (3)- RAB39B

Mental retardation, X-linked 9/44, 309549 (3)- FTSJ1

Mental retardation, X-linked 90, 300850 (3)- DLG3

Mental retardation, X-linked 93, 300659 (3)- BRWD3

Mental retardation, X-linked 94, 300699 (3)- GRIA3

Mental retardation, X-linked 96, 300802 (3)- SYP

Mental retardation, X-linked 97, 300803 (3)- ZNF711

Mental retardation, X-linked 98, 300912 (3)- NEXMIF

Mental retardation, X-linked syndromic 16, 305400 (3)- FGD1

Mental retardation, X-linked syndromic 5, 304340 (3)- AP1S2

Mental retardation, X-linked syndromic, Christianson type, 300243 (3)- SLC9A6

Mental retardation, X-linked syndromic, Lubs type, 300260 (3)- MECP2

Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)- UBE2A

Mental retardation, X-linked syndromic, Raymond type, 300799 (3)- ZDHHC9

Mental retardation, X-linked syndromic, Turner type, 309590 (3)- HUWE1

Mental retardation, X-linked, FRAXE type, 309548 (3)- AFF2

Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)- SMS

Mental retardation, X-linked, syndromic 13, 300055 (3)- MECP2

Mental retardation, X-linked, syndromic 14, 300676 (3)- UPF3B

Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)- CUL4B

Mental retardation, X-linked, syndromic 33, 300966 (3)- TAF1

Mental retardation, X-linked, syndromic, 35, 300998 (3)- RPL10

Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)- KDM5C

Mental retardation, X-linked, syndromic, Hedera type, 300423 (3)- ATP6AP2

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)- OPHN1

Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)- SOX3

Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)- ATRX

Mesothelioma, somatic, 156240 (3)- WT1

Metabolic syndrome, protection against, 605552 (3)- MTTP

Metachondromatosis, 156250 (3)- PTPN11

Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)- PSAP

Metachromatic leukodystrophy, 250100 (3)- ARSA

Metaphyseal anadysplasia 2, 613073 (3)- MMP9

Metaphyseal dysplasia without hypotrichosis, 250460 (3)- RMRP

Metatropic dysplasia, 156530 (3)- TRPV4

Methemoglobinemia and ambiguous genitalia, 250790 (3)- CYB5A

Methemoglobinemia, alpha type, 617973 (3)- HBA1

Methemoglobinemia, type I, 250800 (3)- CYB5R3

Methemoglobinemia, type II, 250800 (3)- CYB5R3

Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)- MAT1A

Methmoglobinemia, beta type, 617971 (3)- HBB

Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)- ALDH6A1

Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)- MMACHC

Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)- LMBRD1

Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)- ABCD4

Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)- CD320

Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)- MMAA

Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)- MMAB

Methylmalonyl-CoA epimerase deficiency, 251120 (3)- MCEE

Mevalonic aciduria, 610377 (3)- MVK

MHC class II deficiency, complementation group B, 209920 (3)- RFXANK

Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)- RNU4ATAC

Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)- PCNT

Microcephaly 1, primary, autosomal recessive, 251200 (3)- MCPH1

Microcephaly 10, primary, autosomal recessive, 615095 (3)- ZNF335

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)- WDR62

Microcephaly 3, primary, autosomal recessive, 604804 (3)- CDK5RAP2

Microcephaly 4, primary, autosomal recessive, 604321 (3)- KNL1

Microcephaly 5, primary, autosomal recessive, 608716 (3)- ASPM

Microcephaly 6, primary, autosomal recessive, 608393 (3)- CENPJ

Microcephaly 7, primary, autosomal recessive, 612703 (3)- STIL

Microcephaly 8, primary, autosomal recessive, 614673 (3)- CEP135

Microcephaly 9, primary, autosomal recessive, 614852 (3)- CEP152

Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)- TUBGCP6

Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)- PLK4

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)- KIF11

Microcephaly, Amish type, 607196 (3)- SLC25A19

Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)- KCNA4

Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)- MSMO1

Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)- IER3IP1

Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)- MED17

Microcephaly, seizures, and developmental delay, 613402 (3)- PNKP

Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)- RTTN

Microcephaly-capillary malformation syndrome, 614261 (3)- STAMBP

Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)- ADAMTS18

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)- BEST1

Microphthalmia with coloboma 5, 611638 (3)- SHH

Microphthalmia with coloboma 6, 613703 (3)- GDF3

Microphthalmia with coloboma 6, digenic, 613703 (3)- GDF6

Microphthalmia with limb anomalies, 206920 (3)- SMOC1

Microphthalmia, isolated 3, 611038 (3)- RAX

Microphthalmia, isolated 4, 613094 (3)- GDF6

Microphthalmia, isolated 5, 611040 (3)- MFRP

Microphthalmia, isolated 6, 613517 (3)- PRSS56

Microphthalmia, isolated 7, 613704 (3)- GDF3

Microphthalmia, isolated 8, 615113 (3)- ALDH1A3

Microphthalmia, isolated, with coloboma 10, 616428 (3)- RBP4

Microphthalmia, isolated, with coloboma 7, 614497 (3)- ABCB6

Microphthalmia, isolated, with coloboma 8, 601186 (3)- STRA6

Microphthalmia, isolated, with coloboma 9, 615145 (3)- TENM3

Microphthalmia, syndromic 2, 300166 (3)- BCOR

Microphthalmia, syndromic 3, 206900 (3)- SOX2

Microphthalmia, syndromic 5, 610125 (3)- OTX2

Microphthalmia, syndromic 6, 607932 (3)- BMP4

Microphthalmia, syndromic 9, 601186 (3)- STRA6

Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)- LTBP2

Microvascular complications of diabetes 2, 612623 (3)- EPO

Microvascular complications of diabetes 3, 612624 (3)- ACE

Microvascular complications of diabetes 6, 612634 (3)- SOD2

Microvascular complications of diabetes 7, 612635 (3)- HFE

Migraine without aura, susceptibility to, 157300 (3)- TNF

Migraine, familial basilar, 602481 (3)- ATP1A2

Migraine, familial hemiplegic, 1, 141500 (3)- CACNA1A

Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)- CACNA1A

Migraine, familial hemiplegic, 2, 602481 (3)- ATP1A2

Migraine, familial hemiplegic, 3, 609634 (3)- SCN1A

Migraine, susceptibility to, 157300 (3)- ESR1

Miller syndrome, 263750 (3)- DHODH

Minicore myopathy with external ophthalmoplegia, 255320 (3)- RYR1

MIRAGE syndrome, 617053 (3)- SAMD9

Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)- DCC

Mismatch repair cancer syndrome, 276300 (3)- MLH1

Mismatch repair cancer syndrome, 276300 (3)- MSH2

Mismatch repair cancer syndrome, 276300 (3)- MSH6

Mismatch repair cancer syndrome, 276300 (3)- PMS2

Mitchell-Riley syndrome, 615710 (3)- RFX6

Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)- NDUFS4

Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)- NDUFAF2

Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)- NDUFAF1

Mitochondrial complex I deficiency, nuclear type 12, 301020 (3)- NDUFA1

Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)- NDUFA11

Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)- NDUFAF4

Mitochondrial complex I deficiency, nuclear type 16, 618238 (3)- NDUFAF5

Mitochondrial complex I deficiency, nuclear type 17, 618239 (3)- NDUFAF6

Mitochondrial complex I deficiency, nuclear type 18, 618240 (3)- NDUFAF3

Mitochondrial complex I deficiency, nuclear type 19, 618241 (3)- FOXRED1

Mitochondrial complex I deficiency, nuclear type 2, 618222 (3)- NDUFS8

Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)- ACAD9

Mitochondrial complex I deficiency, nuclear type 21, 618242 (3)- NUBPL

Mitochondrial complex I deficiency, nuclear type 22, 618243 (3)- NDUFA10

Mitochondrial complex I deficiency, nuclear type 25, 618246 (3)- NDUFB3

Mitochondrial complex I deficiency, nuclear type 26, 618247 (3)- NDUFA9

Mitochondrial complex I deficiency, nuclear type 27, 618248 (3)- MTFMT

Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)- NDUFS7

Mitochondrial complex I deficiency, nuclear type 4, 618225 (3)- NDUFV1

Mitochondrial complex I deficiency, nuclear type 5, 618226 (3)- NDUFS1

Mitochondrial complex I deficiency, nuclear type 6, 618228 (3)- NDUFS2

Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)- NDUFV2

Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)- NDUFS3

Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)- NDUFS6

Mitochondrial complex II deficiency, 252011 (3)- SDHAF1

Mitochondrial complex II deficiency, 252011 (3)- SDHD

Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)- BCS1L

Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)- TTC19

Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)- UQCRB

Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)- UQCRQ

Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)- UQCRC2

Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)- CYC1

Mitochondrial complex IV deficiency, 220110 (3)- COX10

Mitochondrial complex IV deficiency, 220110 (3)- COX6B1

Mitochondrial complex IV deficiency, 220110 (3)- SCO1

Mitochondrial complex IV deficiency, 220110 (3)- TACO1

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)- TMEM70

Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)- TYMP

Mitochondrial DNA depletion syndrome 11, 615084 (3)- MGME1

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)- SLC25A4

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3)- SLC25A4

Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)- TK2

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)- DGUOK

Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)- POLG

Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)- POLG

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)- SUCLA2

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)- MPV17

Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)- RRM2B

Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)- RRM2B

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)- SUCLG1

Mitochondrial phosphate carrier deficiency, 610773 (3)- SLC25A3

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)- POLG

Mitochondrial respiratory chain complex II deficiency, 252011 (3)- SDHA

Miyoshi muscular dystrophy 1, 254130 (3)- DYSF

Miyoshi muscular dystrophy 2 (2)- MMD2

Miyoshi muscular dystrophy 3, 613319 (3)- ANO5

MODY, type I, 125850 (3)- HNF4A

MODY, type II, 125851 (3)- GCK

MODY, type III, 600496 (3)- HNF1A

MODY, type IV, 606392 (3)- PDX1

Mohr-Tranebjaerg syndrome, 304700 (3)- TIMM8A

Molybdenum cofactor deficiency A, 252150 (3)- MOCS1

Molybdenum cofactor deficiency B, 252160 (3)- MOCS2

Molybdenum cofactor deficiency C, 615501 (3)- GPHN

Monocarboxylate transporter 1 deficiency, 616095 (3)- SLC16A1

Mononeuropathy of the median nerve, mild, 613353 (3)- SH3TC2

Mosaic variegated aneuploidy syndrome 1, 257300 (3)- BUB1B

Mosaic variegated aneuploidy syndrome 2, 614114 (3)- CEP57

Mowat-Wilson syndrome, 235730 (3)- ZEB2

Moyamoya disease 2, susceptibility to, 607151 (3)- RNF213

Moyamoya disease 5, 614042 (3)- ACTA2

Muckle-Wells syndrome, 191900 (3)- NLRP3

Mucolipidosis II alpha/beta, 252500 (3)- GNPTAB

Mucolipidosis III alpha/beta, 252600 (3)- GNPTAB

Mucolipidosis IV, 252650 (3)- MCOLN1

Mucopolysaccharidosis Ih, 607014 (3)- IDUA

Mucopolysaccharidosis Ih/s, 607015 (3)- IDUA

Mucopolysaccharidosis II, 309900 (3)- IDS

Mucopolysaccharidosis Is, 607016 (3)- IDUA

Mucopolysaccharidosis IVA, 253000 (3)- GALNS

Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)- SGSH

Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)- NAGLU

Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)- HGSNAT

Mucopolysaccharidosis type IIID, 252940 (3)- GNS

Mucopolysaccharidosis type IVB (Morquio), 253010 (3)- GLB1

Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)- ARSB

Mucopolysaccharidosis VII, 253220 (3)- GUSB

Muenke syndrome, 602849 (3)- FGFR3

Muir-Torre syndrome, 158320 (3)- MLH1

Muir-Torre syndrome, 158320 (3)- MSH2

Mullerian aplasia and hyperandrogenism, 158330 (3)- WNT4

Multicentric carpotarsal osteolysis syndrome, 166300 (3)- MAFB

Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)- PIGN

Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)- PIGA

Multiple endocrine neoplasia 1, 131100 (3)- MEN1

Multiple endocrine neoplasia IIA, 171400 (3)- RET

Multiple endocrine neoplasia IIB, 162300 (3)- RET

Multiple endocrine neoplasia, type IV, 610755 (3)- CDKN1B

Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)- NFU1

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3)- BOLA3

Multiple myeloma, resistance to, 254500 (3)- LIG4

Multiple myeloma, susceptibility to, 254500 (3)- CCND1

Multiple pterygium syndrome, lethal type, 253290 (3)- CHRNA1

Multiple pterygium syndrome, lethal type, 253290 (3)- CHRND

Multiple pterygium syndrome, lethal type, 253290 (3)- CHRNG

Multiple sclerosis, disease progression, modifier of, 126200 (3)- PDCD1

Multiple sclerosis, susceptibility to, 1, 126200 (3)- HLA-DQB1

Multiple sclerosis, susceptibility to, 1, 126200 (3)- HLA-DRB1

Multiple sclerosis, susceptibility to, 5, 614810 (3)- TNFRSF1A

Multiple self-healing squamous epithelioma, susceptibility to, 132800 (3)- TGFBR1

Multiple sulfatase deficiency, 272200 (3)- SUMF1

Multiple synostoses syndrome 1, 186500 (3)- NOG

Multiple synostoses syndrome 2, 610017 (3)- GDF5

Multiple synostoses syndrome 3, 612961 (3)- FGF9

Multiple synostoses syndrome 4, 617898 (3)- GDF6

Multiple system atrophy, susceptibility to, 146500 (3)- COQ2

Multisystemic smooth muscle dysfunction syndrome, 613834 (3)- ACTA2

Muscle glycogenosis, 300559 (3)- PHKA1

Muscular dystrophy, congenital, 613205 (3)- LMNA

Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)- ITGA7

Muscular dystrophy, congenital, megaconial type, 602541 (3)- CHKB

Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)- LAMA2

Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)- DNAJB6

Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3)- CAPN3

Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)- CAPN3

Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)- TTN

Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)- ANO5

Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)- DYSF

Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)- LAMA2

Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)- SGCA

Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3)- SGCB

Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)- SGCG

Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3)- SGCD

Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)- TCAP

Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3)- TRIM32

Muscular dystrophy, rigid spine, 1, 602771 (3)- SELENON

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)- POMT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)- POMT2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)- POMGNT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)- FKTN

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)- FKRP

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)- DAG1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)- B3GALNT2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)- POMGNT2

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)- POMT1

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)- POMT2

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)- POMGNT1

Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)- FKRP

Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)- FKTN

Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3)- POMGNT2

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)- POMT1

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3)- DPM3

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)- POMT2

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)- POMGNT1

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)- FKTN

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)- FKRP

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)- DAG1

Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)- GFPT1

Myasthenic syndrome, congenital, 10, 254300 (3)- DOK7

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)- RAPSN

Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)- DPAGT1

Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)- ALG2

Myasthenic syndrome, congenital, 16, 614198 (3)- SCN4A

Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3)- CHRNA1

Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3)- CHRNA1

Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3)- SLC5A7

Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)- CHRNB1

Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)- CHRND

Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)- CHRNE

Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)- CHRNE

Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)- CHRNE

Myasthenic syndrome, congenital, 5, 603034 (3)- COLQ

Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)- CHAT

Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)- AGRN

Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)- MUSK

Myelodysplastic syndrome (3)- ACSL6

Myelodysplastic syndrome, preleukemic (3)- IRF1

Myelodysplastic syndrome, somatic, 614286 (3)- ASXL1

Myelodysplastic syndrome, somatic, 614286 (3)- SF3B1

Myelodysplastic syndrome, somatic, 614286 (3)- TET2

Myelodysplastic syndrome, susceptibility to, 614286 (3)- GATA2

Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)- MPL

Myelofibrosis, somatic, 254450 (3)- CALR

Myelofibrosis, somatic, 254450 (3)- JAK2

Myelofibrosis, somatic, 254450 (3)- SH2B3

Myelogenous leukemia, acute (3)- ACSL6

Myelogenous leukemia, acute (3)- IRF1

Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1)- CBFB

Myelokathexis, isolated (3)- CXCR4

Myeloproliferative disorder with eosinophilia, 131440 (4)- PDGFRB

Myhre syndrome, 139210 (3)- SMAD4

Myocardial infarction, decreased susceptibility to, 608446 (3)- F7

Myocardial infarction, protection against, 608446 (3)- F13A1

Myocardial infarction, susceptibility to (3)- ACE

Myocardial infarction, susceptibility to, 608446 (3)- ESR1

Myocardial infarction, susceptibility to, 608446 (3)- GCLC

Myocardial infarction, susceptibility to, 608446 (3)- GCLM

Myocardial infarction, susceptibility to, 608446 (3)- ITGB3

Myoclonic epilepsy, infantile, familial, 605021 (3)- TBC1D24

Myoclonic epilepsy, juvenile, susceptibility to, 1, 254770 (3)- EFHC1

Myoclonus, intractable, neonatal, 617235 (3)- KIF5A

Myofibromatosis, infantile, 1, 228550 (3)- PDGFRB

Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)- LPIN1

Myokymia, 121200 (3)- KCNQ2

Myopathy due to myoadenylate deaminase deficiency, 615511 (3)- AMPD1

Myopathy with lactic acidosis, hereditary, 255125 (3)- ISCU

Myopathy, actin, congenital, with cores, 161800 (3)- ACTA1

Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3)- ACTA1

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)- MEGF10

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)- MEGF10

Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)- ACTA1

Myopathy, congenital, with fiber-type disproportion, 255310 (3)- SELENON

Myopathy, congenital, with fiber-type disproportion, 255310 (3)- TPM3

Myopathy, distal, 4, 614065 (3)- FLNC

Myopathy, distal, Tateyama type, 614321 (3)- CAV3

Myopathy, distal, with anterior tibial onset, 606768 (3)- DYSF

Myopathy, distal, with rimmed vacuoles, 617158 (3)- SQSTM1

Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)- PUS1

Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)- YARS2

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)- GFER

Myopathy, myofibrillar, 1, 601419 (3)- DES

Myopathy, myofibrillar, 2, 608810 (3)- CRYAB

Myopathy, myofibrillar, 3, 609200 (3)- MYOT

Myopathy, myofibrillar, 4, 609452 (3)- LDB3

Myopathy, myofibrillar, 5, 609524 (3)- FLNC

Myopathy, myofibrillar, 6, 612954 (3)- BAG3

Myopathy, myofibrillar, 9, with early respiratory failure, 603689 (3)- TTN

Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3)- CRYAB

Myopathy, myosin storage, autosomal dominant, 608358 (3)- MYH7

Myopathy, myosin storage, autosomal recessive, 255160 (3)- MYH7

Myopathy, spheroid body, 182920 (3)- MYOT

Myopathy, tubular aggregate, 1, 160565 (3)- STIM1

Myopathy, X-linked, with excessive autophagy, 310440 (3)- VMA21

Myopathy, X-linked, with postural muscle atrophy, 300696 (3)- FHL1

Myopia 21, autosomal dominant, 614167 (3)- ZNF644

Myopia 6, 608908 (3)- SCO2

Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)- P3H2

Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)- SCN4A

Myotonia congenita, dominant, 160800 (3)- CLCN1

Myotonia congenita, recessive, 255700 (3)- CLCN1

Myotonia levior, recessive (3)- CLCN1

Myotonic dystrophy 1, 160900 (3)- DMPK

Myotonic dystrophy 2, 602668 (3)- CNBP

Myotubular myopathy, X-linked, 310400 (3)- MTM1

Myxoma, intracardiac, 255960 (3)- PRKAR1A

N

N-acetylglutamate synthase deficiency, 237310 (3)- NAGS

Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)- KRT14

Nail-patella syndrome, 161200 (3)- LMX1B

Nance-Horan syndrome, 302350 (3)- NHS

Nanophthalmos 2, 609549 (3)- MFRP

Nasopharyngeal carcinoma 1 (2)- NPC1

Nasopharyngeal carcinoma, somatic, 607107 (3)- TP53

Naxos disease, 601214 (3)- JUP

Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)- TPM3

Nemaline myopathy 11, autosomal recessive, 617336 (3)- MYPN

Nemaline myopathy 2, autosomal recessive, 256030 (3)- NEB

Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3)- ACTA1

Nemaline myopathy 4, autosomal dominant, 609285 (3)- TPM2

Nemaline myopathy 5, Amish type, 605355 (3)- TNNT1

Nemaline myopathy 6, autosomal dominant, 609273 (3)- KBTBD13

Nemaline myopathy 7, autosomal recessive, 610687 (3)- CFL2

Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)- AVPR2

Nephrolithiasis, type I, 310468 (3)- CLCN5

Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)- SLC34A1

Nephronophthisis 1, juvenile, 256100 (3)- NPHP1

Nephronophthisis 11, 613550 (3)- TMEM67

Nephronophthisis 13, 614377 (3)- WDR19

Nephronophthisis 14, 614844 (3)- ZNF423

Nephronophthisis 15, 614845 (3)- CEP164

Nephronophthisis 16, 615382 (3)- ANKS6

Nephronophthisis 2, infantile, 602088 (3)- INVS

Nephronophthisis 3, 604387 (3)- NPHP3

Nephronophthisis 4, 606966 (3)- NPHP4

Nephronophthisis-like nephropathy 1, 613159 (3)- XPNPEP3

Nephropathy due to CFHR5 deficiency, 614809 (3)- CFHR5

Nephrotic syndrome, type 1, 256300 (3)- NPHS1

Nephrotic syndrome, type 15, 617609 (3)- MAGI2

Nephrotic syndrome, type 4, 256370 (3)- WT1

Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)- LAMB2

Nephrotic syndrome, type 7, 615008 (3)- DGKE

Nestor-Guillermo progeria syndrome, 614008 (3)- BANF1

Neu-Laxova syndrome 1, 256520 (3)- PHGDH

Neu-Laxova syndrome 2, 616038 (3)- PSAT1

Neural tube defects, folate-sensitive, susceptibility to, 601634 (3)- MTR

Neural tube defects, folate-sensitive, susceptibility to, 601634 (3)- MTRR

Neural tube defects, susceptibility to, 182940 (3)- FUZ

Neural tube defects, susceptibility to, 182940 (3)- VANGL1

Neural tube defects, susceptibility to, 601634 (3)- MTHFR

Neuroblastoma with Hirschsprung disease, 613013 (3)- PHOX2B

Neuroblastoma, susceptibility to, 1, 256700 (3)- KIF1B

Neuroblastoma, susceptibility to, 2, 613013 (3)- PHOX2B

Neuroblastoma, susceptibility to, 3, 613014 (3)- ALK

Neurocutaneous melanosis, somatic, 249400 (3)- NRAS

Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)- FOLR1

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)- SQSTM1

Neurodegeneration with brain iron accumulation 1, 234200 (3)- PANK2

Neurodegeneration with brain iron accumulation 2B, 610217 (3)- PLA2G6

Neurodegeneration with brain iron accumulation 3, 606159 (3)- FTL

Neurodegeneration with brain iron accumulation 4, 614298 (3)- C19orf12

Neurodegeneration with brain iron accumulation 5, 300894 (3)- WDR45

Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3)- BRAT1

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)- GRIN1

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)- GRIN1

Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 (3)- CTNNB1

Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3)- WDR45B

Neuroepithelioma, 612219 (3)- EWSR1

Neurofibromatosis, familial spinal, 162210 (3)- NF1

Neurofibromatosis, type 1, 162200 (3)- NF1

Neurofibromatosis, type 2, 101000 (3)- NF2

Neurofibromatosis-Noonan syndrome, 601321 (3)- NF1

Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)- RYR1

Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)- HINT1

Neuronopathy, distal hereditary motor, type VI, 604320 (3)- IGHMBP2

Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)- SLC5A7

Neuropathy, distal hereditary motor, type IIA, 158590 (3)- HSPB8

Neuropathy, distal hereditary motor, type IIB, 608634 (3)- HSPB1

Neuropathy, distal hereditary motor, type VA, 600794 (3)- BSCL2

Neuropathy, distal hereditary motor, type VA, 600794 (3)- GARS

Neuropathy, distal hereditary motor, type VIIB, 607641 (3)- DCTN1

Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)- HK1

Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)- SPTLC1

Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)- SPTLC2

Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)- WNK1

Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)- NGF

Neuropathy, hereditary sensory, type ID, 613708 (3)- ATL1

Neuropathy, hereditary sensory, type IE, 614116 (3)- DNMT1

Neuropathy, hereditary sensory, type IIC, 614213 (3)- KIF1A

Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)- CCT5

Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)- FBLN5

Neuropathy, recurrent, with pressure palsies, 162500 (3)- PMP22

Neutral lipid storage disease with myopathy, 610717 (3)- PNPLA2

Neutropenia, cyclic, 162800 (3)- ELANE

Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)- ELANE

Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)- HAX1

Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)- G6PC3

Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)- CSF3R

Neutropenia, severe congenital, X-linked, 300299 (3)- WAS

Neutrophil immunodeficiency syndrome, 608203 (3)- RAC2

Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)- HRAS

Nevus, epidermal, somatic, 162900 (3)- FGFR3

Nevus, epidermal, somatic, 162900 (3)- PIK3CA

Newfoundland rod-cone dystrophy, 607476 (3)- RLBP1

Nicolaides-Baraitser syndrome, 601358 (3)- SMARCA2

Nicotine addiction, susceptibility to, 188890 (3)- CHRNA4

Nicotine dependence, protection against, 188890 (3)- SLC6A3

Niemann-Pick disease, type A, 257200 (3)- SMPD1

Niemann-Pick disease, type B, 607616 (3)- SMPD1

Niemann-Pick disease, type C1, 257220 (3)- NPC1

Niemann-pick disease, type C2, 607625 (3)- NPC2

Niemann-Pick disease, type D, 257220 (3)- NPC1

Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)- NYX

Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)- GRM6

Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)- TRPM1

Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)- SLC24A1

Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)- GPR179

Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)- LRIT3

Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)- CACNA1F

Night blindness, congenital stationary, autosomal dominant 1, 610445 (3)- RHO

Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)- PDE6B

Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)- GNAT1

Night blindness, congenital stationary, type 1G, 616389 (3)- GNAT1

Night blindness, congenital stationary, type 1H, 617024 (3)- GNB3

Nijmegen breakage syndrome, 251260 (3)- NBN

Nijmegen breakage syndrome-like disorder, 613078 (3)- RAD50

Nonaka myopathy, 605820 (3)- GNE

Nonarteritic anterior ischemic optic neuropathy, susceptibility to, 258660 (3)- GP1BA

Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)- EGFR

Nonsmall cell lung cancer, somatic (3)- BRAF

Nonsmall cell lung cancer, somatic, 211980 (3)- IRF1

Nonsmall cell lung cancer, somatic, 211980 (3)- PIK3CA

Nonsmall cell lung cancer, susceptibility to, 211980 (3)- EGFR

Noonan syndrome 1, 163950 (3)- PTPN11

Noonan syndrome 3, 609942 (3)- KRAS

Noonan syndrome 4, 610733 (3)- SOS1

Noonan syndrome 5, 611553 (3)- RAF1

Noonan syndrome 6, 613224 (3)- NRAS

Noonan syndrome 7, 613706 (3)- BRAF

Noonan syndrome 8, 615355 (3)- RIT1

Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3)- PPP1CB

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)- CBL

Noonan-like syndrome with loose anagen hair, 607721 (3)- SHOC2

Norrie disease, 310600 (3)- NDP

Norum disease, 245900 (3)- LCAT

Norwalk virus infection, resistance to (3)- FUT2

Novelty seeking personality, 601696 (1)- DRD4

Nystagmus 1, congenital, X-linked, 310700 (3)- FRMD7

Nystagmus 6, congenital, X-linked, 300814 (3)- GPR143

Nystagmus, infantile periodic alternating, X-linked, 310700 (3)- FRMD7

O

Obesity (BMIQ20), 618406 (3)- MC4R

Obesity with impaired prohormone processing, 600955 (3)- PCSK1

Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)- POMC

Obesity, early-onset, susceptibility to, 601665 (3)- POMC

Obesity, hyperphagia, and developmental delay, 613886 (3)- NTRK2

Obesity, mild, early-onset, 601665 (3)- NR0B2

Obesity, morbid, due to leptin deficiency, 614962 (3)- LEP

Obesity, morbid, due to leptin receptor deficiency, 614963 (3)- LEPR

Obesity, resistance to (3)- PPARG

Obesity, resistence to (BMIQ20), 618306 (3)- MC4R

Obesity, severe, 601665 (3)- PPARG

Obesity, susceptibility to, 601665 (3)- ENPP1

Obesity, susceptibility to, BMIQ12, 612362 (3)- PCSK1

Obesity, susceptibility to, BMIQ14, 612460 (3)- FTO

Obsessive-compulsive disorder, susceptibility to, 164230 (3)- HTR2A

Occipital horn syndrome, 304150 (3)- ATP7A

Occult macular dystrophy, 613587 (3)- RP1L1

Ocular albinism, type I, Nettleship-Falls type, 300500 (3)- GPR143

Oculoauricular syndrome, 612109 (3)- HMX1

Oculodentodigital dysplasia, 164200 (3)- GJA1

Oculodentodigital dysplasia, autosomal recessive, 257850 (3)- GJA1

Oculopharyngeal muscular dystrophy, 164300 (3)- PABPN1

Odontohypophosphatasia, 146300 (3)- ALPL

Ogden syndrome, 300855 (3)- NAA10

Oguchi disease-1, 258100 (3)- SAG

Oguchi disease-2, 613411 (3)- GRK1

Ohdo syndrome, X-linked, 300895 (3)- MED12

Oligodontia-colorectal cancer syndrome, 608615 (3)- AXIN2

Oliver-McFarlane syndrome, 275400 (3)- PNPLA6

Omenn syndrome, 603554 (3)- DCLRE1C

Omenn syndrome, 603554 (3)- RAG1

Omenn syndrome, 603554 (3)- RAG2

Opitz GBBB syndrome, type I, 300000 (3)- MID1

Opitz-Kaveggia syndrome, 305450 (3)- MED12

Optic atrophy 1, 165500 (3)- OPA1

Optic atrophy 3 with cataract, 165300 (3)- OPA3

Optic atrophy 5, 610708 (3)- DNM1L

Optic atrophy 7, 612989 (3)- TMEM126A

Optic atrophy plus syndrome, 125250 (3)- OPA1

Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)- SIX6

Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)- SOX2

Optic nerve hypoplasia, 165550 (3)- PAX6

Ornithine transcarbamylase deficiency, 311250 (3)- OTC

Orofacial cleft 11, 600625 (3)- BMP4

Orofaciodigital syndrome I, 311200 (3)- OFD1

Orofaciodigital syndrome VI, 277170 (3)- CPLANE1

Orolaryngeal cancer, multiple, (3)- CDKN2A

Orotic aciduria, 258900 (3)- UMPS

Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)- DBH

Osseous heteroplasia, progressive, 166350 (3)- GNAS

Osteoarthritis with mild chondrodysplasia, 604864 (3)- COL2A1

Osteoarthritis-5, 612400 (3)- GDF5

Osteofibrous dysplasia, susceptibility to, 607278 (3)- MET

Osteogenesis imperfecta, type I, 166200 (3)- COL1A1

Osteogenesis imperfecta, type II, 166210 (3)- COL1A1

Osteogenesis imperfecta, type II, 166210 (3)- COL1A2

Osteogenesis imperfecta, type III, 259420 (3)- COL1A1

Osteogenesis imperfecta, type III, 259420 (3)- COL1A2

Osteogenesis imperfecta, type IV, 166220 (3)- COL1A1

Osteogenesis imperfecta, type IV, 166220 (3)- COL1A2

Osteogenesis imperfecta, type IX, 259440 (3)- PPIB

Osteogenesis imperfecta, type V, 610967 (3)- IFITM5

Osteogenesis imperfecta, type VI, 613982 (3)- SERPINF1

Osteogenesis imperfecta, type VII, 610682 (3)- CRTAP

Osteogenesis imperfecta, type VIII, 610915 (3)- P3H1

Osteogenesis imperfecta, type X, 613848 (3)- SERPINH1

Osteogenesis imperfecta, type XI, 610968 (3)- FKBP10

Osteogenesis imperfecta, type XII, 613849 (3)- SP7

Osteogenesis imperfecta, type XIII, 614856 (3)- BMP1

Osteoglophonic dysplasia, 166250 (3)- FGFR1

Osteolysis, familial expansile, 174810 (3)- TNFRSF11A

Osteomalacia, tumor-induced (1)- FGF23

Osteopetrosis, autosomal dominant 1, 607634 (3)- LRP5

Osteopetrosis, autosomal dominant 2, 166600 (3)- CLCN7

Osteopetrosis, autosomal dominant 3, 618107 (3)- PLEKHM1

Osteopetrosis, autosomal recessive 1, 259700 (3)- TCIRG1

Osteopetrosis, autosomal recessive 2, 259710 (3)- TNFSF11

Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)- CA2

Osteopetrosis, autosomal recessive 4, 611490 (3)- CLCN7

Osteopetrosis, autosomal recessive 5, 259720 (3)- OSTM1

Osteopetrosis, autosomal recessive 7, 612301 (3)- TNFRSF11A

Osteopetrosis, autosomal recessive 8, 615085 (3)- SNX10

Osteoporosis, 166710 (3)- LRP5

Osteoporosis, postmenopausal, 166710 (3)- COL1A2

Osteoporosis-pseudoglioma syndrome, 259770 (3)- LRP5

Osteosarcoma, 259500 (3)- TP53

Osteosarcoma, somatic, 259500 (3)- CHEK2

Osteosarcoma, somatic, 259500 (3)- RB1

Osteosclerosis, 144750 (3)- LRP5

Otitis media, susceptibility to, 166760 (3)- A2ML1

Otopalatodigital syndrome, type I, 311300 (3)- FLNA

Otopalatodigital syndrome, type II, 304120 (3)- FLNA

Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)- COL11A2

Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)- COL11A2

Ovalocytosis, SA type, 166900 (3)- SLC4A1

Ovarian cancer, somatic, (3)- ERBB2

Ovarian cancer, somatic, 167000 (3)- AKT1

Ovarian cancer, somatic, 167000 (3)- CDH1

Ovarian cancer, somatic, 167000 (3)- CTNNB1

Ovarian cancer, somatic, 167000 (3)- PIK3CA

Ovarian cancer, somatic, 167000 (3)- PRKN

Ovarian dysgenesis 1, 233300 (3)- FSHR

Ovarian dysgenesis 2, 300510 (3)- BMP15

Ovarian dysgenesis 3, 614324 (3)- PSMC3IP

Ovarian dysgenesis 7, 618117 (3)- MRPS22

Ovarian hyperstimulation syndrome, 608115 (3)- FSHR

Ovarian response to FSH stimulation, 276400 (3)- FSHR

Ovarioleukodystrophy, 603896 (3)- EIF2B2

Ovarioleukodystrophy, 603896 (3)- EIF2B4

Ovarioleukodystrophy, 603896 (3)- EIF2B5

Overhydrated hereditary stomatocytosis, 185000 (3)- RHAG

P

Paget disease of bone 2, early-onset, 602080 (3)- TNFRSF11A

Paget disease of bone 3, 167250 (3)- SQSTM1

Paget disease of bone 5, juvenile-onset, 239000 (3)- TNFRSF11B

Pallister-Hall syndrome, 146510 (3)- GLI3

Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)- RSPO1

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)- RSPO1

Palmoplantar keratoderma with congenital alopecia, 104100 (3)- GJA1

Palmoplantar keratoderma, epidermolytic, 144200 (3)- KRT1

Palmoplantar keratoderma, nonepidermolytic, 600962 (3)- KRT1

Pancreatic agenesis 1, 260370 (3)- PDX1

Pancreatic agenesis 2, 615935 (3)- PTF1A

Pancreatic agenesis and congenital heart defects, 600001 (3)- GATA6

Pancreatic and cerebellar agenesis, 609069 (3)- PTF1A

Pancreatic cancer 2, 613347 (3)- BRCA2

Pancreatic cancer, somatic 260350 (3)- TP53

Pancreatic cancer, somatic, 260350 (3)- SMAD4

Pancreatic cancer, somatic, 260350 (3)- STK11

Pancreatic cancer, susceptibility to, 1, 606856 (3)- PALLD

Pancreatic cancer, susceptibility to, 3, 613348 (3)- PALB2

Pancreatic cancer, susceptibility to, 4, 614320 (3)- BRCA1

Pancreatic cancer/melanoma syndrome, 606719 (3)- CDKN2A

Pancreatic carcinoma, somatic (3)- RBBP8

Pancreatic carcinoma, somatic, 260350 (3)- KRAS

Pancreatitis, hereditary, 167800 (3)- CFTR

Pancreatitis, hereditary, 167800 (3)- PRSS1

Pancreatitis, hereditary, 167800 (3)- SPINK1

Panhypopituitarism, X-linked, 312000 (3)- SOX3

Panic disorder, susceptibility to, 167870 (3)- COMT

Papillorenal syndrome, 120330 (3)- PAX2

Paraganglioma and gastric stromal sarcoma, 606864 (3)- SDHB

Paraganglioma and gastric stromal sarcoma, 606864 (3)- SDHC

Paraganglioma and gastric stromal sarcoma, 606864 (3)- SDHD

Paragangliomas 1, with or without deafness, 168000 (3)- SDHD

Paragangliomas 2, 601650 (3)- SDHAF2

Paragangliomas 3, 605373 (3)- SDHC

Paragangliomas 4, 115310 (3)- SDHB

Paragangliomas 5, 614165 (3)- SDHA

Paramyotonia congenita, 168300 (3)- SCN4A

Parastremmatic dwarfism, 168400 (3)- TRPV4

Parathyroid adenoma with cystic changes, 145001 (3)- CDC73

Parathyroid adenoma, somatic (3)- MEN1

Parathyroid carcinoma, 608266 (3)- CDC73

Parkinson disease 1, 168601 (3)- SNCA

Parkinson disease 11, 607688 (3)- GIGYF2

Parkinson disease 13, 610297 (3)- HTRA2

Parkinson disease 14, autosomal recessive, 612953 (3)- PLA2G6

Parkinson disease 15, autosomal recessive, 260300 (3)- FBXO7

Parkinson disease 17, 614203 (3)- VPS35

Parkinson disease 18, 614251 (3)- EIF4G1

Parkinson disease 4, 605543 (3)- SNCA

Parkinson disease 6, early onset, 605909 (3)- PINK1

Parkinson disease 8, 607060 (3)- LRRK2

Parkinson disease, juvenile, type 2, 600116 (3)- PRKN

Parkinson disease, late-onset, susceptibility to, 168600 (3)- ATXN2

Parkinson disease, late-onset, susceptibility to, 168600 (3)- GBA

Parkinson disease, susceptibility to, 168600 (3)- ATXN8OS

Parkinson disease, susceptibility to, 168600 (3)- MAPT

Parkinson disease, susceptibility to, 168600 (3)- TBP

Parkinsonism-dystonia, infantile, 1, 613135 (3)- SLC6A3

Paroxysmal extreme pain disorder, 167400 (3)- SCN9A

Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)- PIGA

Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)- MR1

Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)- KCNMA1

Partington syndrome, 309510 (3)- ARX

PCWH syndrome, 609136 (3)- SOX10

Peeling skin syndrome 2, 609796 (3)- TGM5

Peeling skin syndrome 5, 617115 (3)- SERPINB8

Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3)- LBR

Pelger-Huet anomaly, 169400 (3)- LBR

Pelizaeus-Merzbacher disease, 312080 (3)- PLP1

Pendred syndrome, 274600 (3)- SLC26A4

PEPCK deficiency, mitochondrial, 261650 (1)- PCK2

Periodic fever, familial, 142680 (3)- TNFRSF1A

Periventricular heterotopia with microcephaly, 608097 (3)- ARFGEF2

Perlman syndrome, 267000 (3)- DIS3L2

Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)- ACOX1

Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3)- FAR1

Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)- PEX3

Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3)- PEX13

Peroxisome biogenesis disorder 11B, 614885 (3)- PEX13

Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)- PEX19

Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)- PEX14

Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)- PEX1

Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)- PEX1

Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)- PEX5

Peroxisome biogenesis disorder 2B, 202370 (3)- PEX5

Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3)- PEX12

Peroxisome biogenesis disorder 3B, 266510 (3)- PEX12

Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)- PEX6

Peroxisome biogenesis disorder 4B, 614863 (3)- PEX6

Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)- PEX2

Peroxisome biogenesis disorder 5B, 614867 (3)- PEX2

Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)- PEX10

Peroxisome biogenesis disorder 6B, 614871 (3)- PEX10

Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)- PEX26

Peroxisome biogenesis disorder 7B, 614873 (3)- PEX26

Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)- PEX16

Peroxisome biogenesis disorder 8B, 614877 (3)- PEX16

Peroxisome biogenesis disorder 9B, 614879 (3)- PEX7

Perrault syndrome 1, 233400 (3)- HSD17B4

Perrault syndrome 3, 614129 (3)- CLPP

Perrault syndrome 4, 615300 (3)- LARS2

Perry syndrome, 168605 (3)- DCTN1

Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)- ATOH7

Persistent Mullerian duct syndrome, type I, 261550 (3)- AMH

Persistent Mullerian duct syndrome, type II, 261550 (3)- AMHR2

Persistent truncus arteriosus, 217095 (3)- GATA6

Persistent truncus arteriosus, 217095 (3)- NKX2-6

Peters-plus syndrome, 261540 (3)- B3GLCT

Peutz-Jeghers syndrome, 175200 (3)- STK11

Pfeiffer syndrome, 101600 (3)- FGFR1

Pfeiffer syndrome, 101600 (3)- FGFR2

Phelan-McDermid syndrome, 606232 (3)- SHANK3

Phenylketonuria, 261600 (3)- PAH

Pheochromocytoma, 171300 (3)- KIF1B

Pheochromocytoma, 171300 (3)- RET

Pheochromocytoma, 171300 (3)- SDHB

Pheochromocytoma, 171300 (3)- SDHD

Pheochromocytoma, 171300 (3)- VHL

Pheochromocytoma, modifier of, 171300 (3)- GDNF

Pheochromocytoma, susceptibility to, 171300 (3)- MAX

Pheochromocytoma, susceptibility to, 171300 (3)- TMEM127

Phosphoglycerate dehydrogenase deficiency, 601815 (3)- PHGDH

Phosphoglycerate kinase 1 deficiency, 300653 (3)- PGK1

Phospholipid phosphatase 6, 611666 (3)- PLPP6

Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)- PRPS1

Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)- PHKB

Phosphoserine phosphatase deficiency, 614023 (3)- PSPH

Pick disease, 172700 (3)- MAPT

Pick disease, 172700 (3)- PSEN1

Piebaldism, 172800 (3)- KIT

Pierpont syndrome, 602342 (3)- TBL1XR1

Pierson syndrome, 609049 (3)- LAMB2

Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)- PRKAR1A

Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)- PDE11A

Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)- PDE8B

Pigmented paravenous chorioretinal atrophy, 172870 (3)- CRB1

Pilomatricoma, somatic, 132600 (3)- CTNNB1

Pitt-Hopkins like syndrome 1, 610042 (3)- CNTNAP2

Pitt-Hopkins syndrome, 610954 (3)- TCF4

Pitt-Hopkins-like syndrome 2, 614325 (3)- NRXN1

Pituitary ACTH-secreting adenoma (3)- GNAI2

Pituitary adenoma 1, multiple types, 102200 (3)- AIP

Pituitary adenoma 3, multiple types, somatic, 617686 (3)- GNAS

Pituitary adenoma 5, multiple types, 617540 (3)- CDH23

Pituitary adenoma predisposition, 102200 (3)- AIP

Pituitary hormone deficiency, combined, 1, 613038 (3)- POU1F1

Pituitary hormone deficiency, combined, 2, 262600 (3)- PROP1

Pituitary hormone deficiency, combined, 3, 221750 (3)- LHX3

Pituitary hormone deficiency, combined, 4, 262700 (3)- LHX4

Pituitary hormone deficiency, combined, 5, 182230 (3)- HESX1

Pituitary hormone deficiency, combined, 6, 613986 (3)- OTX2

Pituitary tumor, invasive (3)- PRKCA

Placental abruption (3)- NOS3

Plasma fibronectin deficiency, 614101 (1)- FN1

Plasminogen deficiency, type I, 217090 (3)- PLG

Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)- RUNX1

Platelet glycoprotein IV deficiency, 608404 (3)- CD36

Platelet-activating factor acetylhydrolase deficiency, 614278 (3)- PLA2G7

Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)- COL2A1

Pleuropulmonary blastoma, 601200 (3)- DICER1

Pneumothorax, primary spontaneous, 173600 (3)- FLCN

Polycystic kidney disease 1, 173900 (3)- PKD1

Polycystic kidney disease 2, 613095 (3)- PKD2

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3)- TYROBP

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3)- TREM2

Polycystic liver disease 1, 174050 (3)- PRKCSH

Polycystic liver disease 2, 617004 (3)- SEC63

Polycystic liver disease 3 with or without kidney cysts, 617874 (3)- ALG8

Polycystic liver disease 4 with or without kidney cysts, 617875 (3)- LRP5

Polycythemia vera, somatic, 263300 (3)- JAK2

Polydactyly, postaxial, types A1 and B, 174200 (3)- GLI3

Polydactyly, preaxial, type IV, 174700 (3)- GLI3

Polyglucosan body disease, adult form, 263570 (3)- GBE1

Polyglucosan body myopathy 2, 616199 (3)- GYG1

Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)- STRADA

Polymicrogyria with or without vascular-type EDS, 618343 (3)- COL3A1

Polymicrogyria, bilateral frontoparietal, 606854 (3)- ADGRG1

Polymicrogyria, bilateral perisylvian, 615752 (3)- ADGRG1

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)- ABHD12

Polyposis syndrome, hereditary mixed, 2, 610069 (3)- BMPR1A

Polyposis, juvenile intestinal, 174900 (3)- BMPR1A

Polyposis, juvenile intestinal, 174900 (3)- SMAD4

Pontocerebellar hypoplasia type 1A, 607596 (3)- VRK1

Pontocerebellar hypoplasia type 2A, 277470 (3)- TSEN54

Pontocerebellar hypoplasia type 2B, 612389 (3)- TSEN2

Pontocerebellar hypoplasia type 2D, 613811 (3)- SEPSECS

Pontocerebellar hypoplasia type 4, 225753 (3)- TSEN54

Pontocerebellar hypoplasia, type 1B, 614678 (3)- EXOSC3

Pontocerebellar hypoplasia, type 6, 611523 (3)- RARS2

Pontocerebellar hypoplasia, type 8, 614961 (3)- CHMP1A

Poretti-Boltshauser syndrome, 615960 (3)- LAMA1

Porokeratosis 1, multiple types, 175800 (3)- PMVK

Porokeratosis 3, multiple types, 175900 (3)- MVK

Porphyria cutanea tarda, 176100 (3)- UROD

Porphyria cutanea tarda, susceptibility to, 176100 (3)- HFE

Porphyria variegata, 176200 (3)- PPOX

Porphyria variegata, susceptibility to, 176200 (3)- HFE

Porphyria, acute hepatic, 612740 (3)- ALAD

Porphyria, acute intermittent, 176000 (3)- HMBS

Porphyria, acute intermittent, nonerythroid variant, 176000 (3)- HMBS

Porphyria, congenital erythropoietic, 263700 (3)- UROS

Porphyria, hepatoerythropoietic, 176100 (3)- UROD

Portal hypertension, noncirrhotic, 617068 (3)- DGUOK

Prader-Willi syndrome, 176270 (3)- NDN

Prader-Willi syndrome, 176270 (3)- SNRPN

Precocious puberty, male, 176410 (3)- LHCGR

Preeclampsia, susceptibility to (3)- AGT

Preeclampsia/eclampsia 4, 609404 (3)- STOX1

Preeclampsia/eclampsia 5, 614595 (3)- CORIN

Pregnancy loss, recurrent, 4, 270960 (3)- SYCP3

Pregnancy loss, recurrent, susceptibility to, 1, 614389 (3)- F5

Pregnancy loss, recurrent, susceptibility to, 2, 614390 (3)- F2

Pregnancy loss, recurrent, susceptibility to, 3, 614391 (3)- ANXA5

Premature aging syndrome, Penttinen type, 601812 (3)- PDGFRB

Premature chromatid separation trait, 176430 (3)- BUB1B

Premature ovarian failure 1, 311360 (3)- FMR1

Premature ovarian failure 3, 608996 (3)- FOXL2

Premature ovarian failure 4, 300510 (3)- BMP15

Premature ovarian failure 5, 611548 (3)- NOBOX

Premature ovarian failure 6, 612310 (3)- FIGLA

Premature ovarian failure 7, 612964 (3)- NR5A1

Preterm premature rupture of the membranes, susceptibility to, 610504 (3)- SERPINH1

Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)- CACNA1D

Primary lateral sclerosis, juvenile, 606353 (3)- ALS2

Primrose syndrome, 259050 (3)- ZBTB20

Prion disease with protracted course, 606688 (3)- PRNP

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)- SLC25A4

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)- POLG2

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)- RRM2B

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)- DNA2

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)- DGUOK

Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)- POLG

Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)- POLG

Progressive familial heart block, type IB, 604559 (3)- TRPM4

Prolidase deficiency, 170100 (3)- PEPD

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)- FLVCR2

Propionicacidemia, 606054 (3)- PCCA

Propionicacidemia, 606054 (3)- PCCB

Prostate cancer 1, 601518 (3)- RNASEL

Prostate cancer, 176807 (3)- BRCA2

Prostate cancer, familial, susceptibility to, 176807 (3)- CHEK2

Prostate cancer, hereditary, 13, 611928 (3)- MSMB

Prostate cancer, hereditary, 2, susceptibility to, 614731 (3)- ELAC2

Prostate cancer, hereditary, 9, 610997 (3)- HOXB13

Prostate cancer, somatic, 176807 (3)- PTEN

Prostate cancer, susceptibility to, 176807 (3)- AR

Prostate cancer, susceptibility to, 176807 (3)- CDH1

Proteasome-associated autoinflammatory syndrome 2, 618048 (3)- POMP

Protein Z deficiency, 614024 (3)- PROZ

Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)- CLCN5

Proteus syndrome, somatic, 176920 (3)- AKT1

Protoporphyria, erythropoietic, 1, 177000 (3)- FECH

Protoporphyria, erythropoietic, X-linked, 300752 (3)- ALAS2

Proud syndrome, 300004 (3)- ARX

Proximal myopathy and ophthalmoplegia, 605637 (3)- MYH2

Pseudohermaphroditism, male, with gynecomastia, 264300 (3)- HSD17B3

Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)- ABCB6

Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)- NR3C2

Pseudohypoaldosteronism, type I, 264350 (3)- SCNN1A

Pseudohypoaldosteronism, type I, 264350 (3)- SCNN1B

Pseudohypoaldosteronism, type I, 264350 (3)- SCNN1G

Pseudohypoaldosteronism, type IIC, 614492 (3)- WNK1

Pseudohypoaldosteronism, type IID, 614495 (3)- KLHL3

Pseudohypoaldosteronism, type IIE, 614496 (3)- CUL3

Pseudohypoparathyroidism Ia, 103580 (3)- GNAS

Pseudohypoparathyroidism Ib, 603233 (3)- GNAS

Pseudohypoparathyroidism Ic, 612462 (3)- GNAS

Pseudohypoparathyroidism, type IB, 603233 (3)- STX16

Pseudopseudohypoparathyroidism, 612463 (3)- GNAS

Pseudo-TORCH syndrome 1, 251290 (3)- OCLN

Pseudovaginal perineoscrotal hypospadias, 264600 (3)- SRD5A2

Pseudoxanthoma elasticum, 264800 (3)- ABCC6

Pseudoxanthoma elasticum, forme fruste, 177850 (3)- ABCC6

Pseudoxanthoma elasticum, modifier of severity of, 264800 (3)- XYLT1

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)- GGCX

Psoriasis susceptibility 1, 177900 (3)- HLA-C

Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)- SNIP1

Pulmonary alveolar microlithiasis, 265100 (3)- SLC34A2

Pulmonary disease, chronic obstructive, susceptibility to, 606963 (1)- SERPINA1

Pulmonary disease, chronic obstructive, susceptibility to, 606963 (3)- HMOX1

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 (3)- TERT

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)- RTEL1

Pulmonary fibrosis, idiopathic, 178500 (3)- SFTPA2

Pulmonary fibrosis, idiopathic, susceptibility to, 178500 (3)- MUC5B

Pulmonary fibrosis, idiopathic, susceptibility to, 614743 (3)- TERC

Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3)- BMPR2

Pulmonary hypertension, neonatal, susceptibility to, 615371 (3)- CPS1

Pulmonary hypertension, primary, 3, 615343 (3)- CAV1

Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3)- BMPR2

Pulmonary venoocclusive disease 1, 265450 (3)- BMPR2

Purpura, posttransfusion (3)- ITGB3

Pycnodysostosis, 265800 (3)- CTSK

Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)- MYD88

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)- PSTPIP1

Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)- PNPO

Pyropoikilocytosis, 266140 (3)- SPTA1

Pyruvate carboxylase deficiency, 266150 (3)- PC

Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)- PDHA1

Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)- PDHB

Pyruvate dehydrogenase E2 deficiency, 245348 (3)- DLAT

Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)- PDP1

Pyruvate kinase deficiency, 266200 (3)- PKLR

Q

Quebec platelet disorder, 601709 (3)- PLAU

Question mark ears, isolated, 612798 (3)- EDN1

R

Rabson-Mendenhall syndrome, 262190 (3)- INSR

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3)- HOXA11

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)- MECOM

RAPADILINO syndrome, 266280 (3)- RECQL4

RAS-associated autoimmune leukoproliferative disorder, 614470 (3)- KRAS

Recombination rate QTL 1, 612042 (3)- RNF212

Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3)- FHL1

Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3)- FHL1

Refsum disease, 266500 (3)- PHYH

Renal carcinoma, chromophobe, somatic, 144700 (3)- FLCN

Renal cell carcinoma, 144700 (3)- HNF1A

Renal cell carcinoma, 144700 (3)- RNF139

Renal cell carcinoma, 144700 (3)- HNF1B

Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)- MET

Renal cell carcinoma, somatic, 144700 (3)- VHL

Renal cysts and diabetes syndrome, 137920 (3)- HNF1B

Renal tubular acidosis, distal, AD, 179800 (3)- SLC4A1

Renal tubular acidosis, distal, AR, 611590 (3)- SLC4A1

Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)- SLC4A4

Renal tubular dysgenesis, 267430 (3)- ACE

Renal tubular dysgenesis, 267430 (3)- AGT

Renal tubular dysgenesis, 267430 (3)- AGTR1

Renal tubular dysgenesis, 267430 (3)- REN

Renal-hepatic-pancreatic dysplasia 1, 208540 (3)- NPHP3

Renpenning syndrome, 309500 (3)- PQBP1

Resistance to malaria due to G6PD deficiency, 611162 (3)- G6PD

Resting heart rate, 607276 (3)- ADRB1

Restrictive dermopathy, lethal, 275210 (3)- LMNA

Restrictive dermopathy, lethal, 275210 (3)- ZMPSTE24

Reticular dysgenesis, 267500 (3)- AK2

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)- IGFBP7

Retinal cone dystrophy 3, 610024 (3)- PDE6H

Retinal cone dystrophy 3B, 610356 (3)- KCNV2

Retinal cone dystrophy 4, 610478 (3)- CACNA2D4

Retinal degeneration, autosomal recessive, clumped pigment type (3)- NRL

Retinal degeneration, late-onset, autosomal dominant, 605670 (3)- C1QTNF5

Retinal disease in Usher syndrome type IIA, modifier of, 276901 (3)- PDZD7

Retinal dystrophy with macular staphyloma, 617547 (3)- CFAP410

Retinal dystrophy, early-onset severe, 248200 (3)- ABCA4

Retinal dystrophy, early-onset severe, 613341 (3)- LRAT

Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3)- OTX2

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3)- RBP4

Retinitis pigmentosa 1, 180100 (3)- RP1

Retinitis pigmentosa 10, 180105 (3)- IMPDH1

Retinitis pigmentosa 11, 600138 (3)- PRPF31

Retinitis pigmentosa 13, 600059 (3)- PRPF8

Retinitis pigmentosa 14, 600132 (3)- TULP1

Retinitis pigmentosa 17, 600852 (3)- CA4

Retinitis pigmentosa 18, 601414 (3)- PRPF3

Retinitis pigmentosa 19, 601718 (3)- ABCA4

Retinitis pigmentosa 2, 312600 (3)- RP2

Retinitis pigmentosa 20, 613794 (3)- RPE65

Retinitis pigmentosa 25, 602772 (3)- EYS

Retinitis pigmentosa 26, 608380 (3)- CERKL

Retinitis pigmentosa 27, 613750 (3)- NRL

Retinitis pigmentosa 28, 606068 (3)- FAM161A

Retinitis pigmentosa 3, 300029 (3)- RPGR

Retinitis pigmentosa 30, 607921 (3)- FSCN2

Retinitis pigmentosa 31, 609923 (3)- TOPORS

Retinitis pigmentosa 33, 610359 (3)- SNRNP200

Retinitis pigmentosa 35, 610282 (3)- SEMA4A

Retinitis pigmentosa 36, 610599 (3)- PRCD

Retinitis pigmentosa 37, 611131 (3)- NR2E3

Retinitis pigmentosa 38, 613862 (3)- MERTK

Retinitis pigmentosa 39, 613809 (3)- USH2A

Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)- RHO

Retinitis pigmentosa 41, 612095 (3)- PROM1

Retinitis pigmentosa 42, 612943 (3)- KLHL7

Retinitis pigmentosa 43, 613810 (3)- PDE6A

Retinitis pigmentosa 44, 613769 (3)- RGR

Retinitis pigmentosa 45, 613767 (3)- CNGB1

Retinitis pigmentosa 46, 612572 (3)- IDH3B

Retinitis pigmentosa 47, 613758 (3)- SAG

Retinitis pigmentosa 48, 613827 (3)- GUCA1B

Retinitis pigmentosa 49, 613756 (3)- CNGA1

Retinitis pigmentosa 54, 613428 (3)- PCARE

Retinitis pigmentosa 56, 613581 (3)- IMPG2

Retinitis pigmentosa 57, 613582 (3)- PDE6G

Retinitis pigmentosa 59, 613861 (3)- DHDDS

Retinitis pigmentosa 60, 613983 (3)- PRPF6

Retinitis pigmentosa 61, 614180 (3)- CLRN1

Retinitis pigmentosa 62, 614181 (3)- MAK

Retinitis pigmentosa 64, 614500 (3)- C8orf37

Retinitis pigmentosa 65, 613660 (3)- CDHR1

Retinitis pigmentosa 7 and digenic form, 608133 (3)- PRPH2

Retinitis pigmentosa 7, digenic form, 608133 (3)- ROM1

Retinitis pigmentosa 72, 616469 (3)- ZNF408

Retinitis pigmentosa 73, 616544 (3)- HGSNAT

Retinitis pigmentosa 74, 616562 (3)- BBS2

Retinitis pigmentosa 76, 617123 (3)- POMGNT1

Retinitis pigmentosa 79, 617460 (3)- HK1

Retinitis pigmentosa 80, 617781 (3)- IFT140

Retinitis pigmentosa, concentric, 613194 (3)- BEST1

Retinitis pigmentosa, juvenile, 604393 (3)- AIPL1

Retinitis pigmentosa, juvenile, 613341 (3)- LRAT

Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)- SPATA7

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)- RPGR

Retinitis pigmentosa-12, 600105 (3)- CRB1

Retinitis pigmentosa-40, 613801 (3)- PDE6B

Retinitis pigmentosa-50, 613194 (3)- BEST1

Retinitis punctata albescens, 136880 (3)- PRPH2

Retinitis punctata albescens, 136880 (3)- RLBP1

Retinitis punctata albescens, 136880 (3)- RHO

Retinoblastoma, 180200 (3)- RB1

Retinoblastoma, trilateral, 180200 (3)- RB1

Retinopathy of prematurity, 133780 (3)- FZD4

Retinoschisis, 312700 (3)- RS1

Rett syndrome, 312750 (3)- MECP2

Rett syndrome, atypical, 312750 (3)- MECP2

Rett syndrome, congenital variant, 613454 (3)- FOXG1

Rett syndrome, preserved speech variant, 312750 (3)- MECP2

Revesz syndrome, 268130 (3)- TINF2

Rhabdoid tumor predisposition syndrome 1, 609322 (3)- SMARCB1

Rhabdoid tumor predisposition syndrome 2, 613325 (3)- SMARCA4

Rhabdoid tumors, somatic, 609322 (3)- SMARCB1

Rhabdomyosarcoma 2, alveolar, 268220 (3)- PAX3

Rhabdomyosarcoma, embryonal, 2, 180295 (3)- DICER1

Rheumatoid arthritis, susceptibility to, 180300 (3)- CIITA

Rheumatoid arthritis, susceptibility to, 180300 (3)- SLC22A4

Rheumatoid arthritis, systemic juvenile, 604302 (3)- IL6

Rheumatoid arthritis, systemic juvenile, susceptibility to, 604302 (3)- MIF

Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)- PEX7

Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)- GNPAT

Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)- AGPS

Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)- PEX5

Rh-null disease, amorph type, 617970 (3)- RHCE

Riboflavin deficiency, 615026 (3)- SLC52A1

Ribose 5-phosphate isomerase deficiency, 608611 (3)- RPIA

Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)- CYP2R1

Rickets, vitamin D-resistant, type IIA, 277440 (3)- VDR

RIDDLE syndrome, 611943 (3)- RNF168

Right atrial isomerism (Ivemark), 208530 (3)- GDF1

Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)- BRAT1

Ring dermoid of cornea, 180550 (3)- PITX2

Rippling muscle disease 2, 606072 (3)- CAV3

Roberts syndrome, 268300 (3)- ESCO2

Robinow syndrome, autosomal recessive, 268310 (3)- ROR2

Robinow-Sorauf syndrome, 180750 (3)- TWIST1

Roifman syndrome, 616651 (3)- RNU4ATAC

Rothmund-Thomson syndrome, 268400 (3)- RECQL4

Roussy-Levy syndrome, 180800 (3)- MPZ

Roussy-Levy syndrome, 180800 (3)- PMP22

Rubinstein-Taybi syndrome 1, 180849 (3)- CREBBP

Rubinstein-Taybi syndrome 2, 613684 (3)- EP300

S

Saccharopinuria, 268700 (1)- AASS

SADDAN, 616482 (3)- FGFR3

Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3)- TWIST1

Saethre-Chotzen syndrome, 101400 (3)- FGFR2

Salih myopathy, 611705 (3)- TTN

Salla disease, 604369 (3)- SLC17A5

Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)- HEXB

Sarcoidosis, susceptibility to, 1, 181000 (3)- HLA-DRB1

Sarcoidosis, susceptibility to, 2, 612387 (3)- BTNL2

Sarcoma, synovial (1)- SS18

SARS, progression of (3)- ACE

Saul-Wilson syndrome, 618150 (3)- COG4

SBBYSS syndrome, 603736 (3)- KAT6B

SC phocomelia syndrome, 269000 (3)- ESCO2

Scaphocephaly and Axenfeld-Rieger anomaly (3)- FGFR2

Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)- FGFR2

Scapuloperoneal myopathy, X-linked dominant, 300695 (3)- FHL1

Scapuloperoneal spinal muscular atrophy, 181405 (3)- TRPV4

Scapuloperoneal syndrome, myopathic type, 181430 (3)- MYH7

Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)- DES

Schaaf-Yang syndrome, 615547 (3)- MAGEL2

Schimke immunoosseous dysplasia, 242900 (3)- SMARCAL1

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)- HRAS

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)- KRAS

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)- NRAS

Schindler disease, type I, 609241 (3)- NAGA

Schindler disease, type III, 609241 (3)- NAGA

Schinzel-Giedion midface retraction syndrome, 269150 (3)- SETBP1

Schizencephaly, 269160 (3)- COL4A1

Schizencephaly, 269160 (3)- EMX2

Schizencephaly, 269160 (3)- SHH

Schizencephaly, 269160 (3)- SIX3

Schizophrenia 15, 613950 (3)- SHANK3

Schizophrenia, susceptibility to, 17, 614332 (3)- NRXN1

Schizophrenia, susceptibility to, 181500 (2)- AKT1

Schizophrenia, susceptibility to, 181500 (3)- COMT

Schizophrenia, susceptibility to, 181500 (3)- HTR2A

Schizophrenia, susceptibility to, 181500 (3)- MTHFR

Schizophrenia, susceptibility to, 4, 600850 (3)- PRODH

Schuurs-Hoeijmakers syndrome, 615009 (3)- PACS1

Schwannomatosis, somatic, 162091 (3)- NF2

Schwannomatosis-1, susceptibility to, 162091 (3)- SMARCB1

SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)- JAK3

Sclerosteosis 1, 269500 (3)- SOST

Sclerosteosis 2, 614305 (3)- LRP4

Scott syndrome, 262890 (3)- ANO6

Sea-blue histiocyte disease, 269600 (3)- APOE

Seasonal affective disorder, susceptibility to, 608516 (3)- HTR2A

Seckel syndrome 1, 210600 (3)- ATR

Seckel syndrome 2, 606744 (3)- RBBP8

Seckel syndrome 5, 613823 (3)- CEP152

SED congenita, 183900 (3)- COL2A1

SED, Maroteaux type, 184095 (3)- TRPV4

Segawa syndrome, recessive, 605407 (3)- TH

Seizures, benign familial infantile, 2, 605751 (3)- PRRT2

Seizures, benign familial infantile, 3, 607745 (3)- SCN2A

Seizures, benign familial infantile, 5, 617080 (3)- SCN8A

Seizures, benign neonatal, 1, 121200 (3)- KCNQ2

Seizures, benign neonatal, 2, 121201 (3)- KCNQ3

Seizures, cortical blindness, microcephaly syndrome, 616632 (3)- DIAPH1

Sengers syndrome, 212350 (3)- AGK

Senior-Loken syndrome 4, 606996 (3)- NPHP4

Senior-Loken syndrome 5, 609254 (3)- IQCB1

Senior-Loken syndrome 6, 610189 (3)- CEP290

Senior-Loken syndrome 7, 613615 (3)- SDCCAG8

Senior-Loken syndrome 8, 616307 (3)- WDR19

Senior-Loken syndrome-1, 266900 (3)- NPHP1

Septic shock, susceptibility to (3)- TNF

Septooptic dysplasia, 182230 (3)- HESX1

SESAME syndrome, 612780 (3)- KCNJ10

Severe combined immunodeficiency due to ADA deficiency, 102700 (3)- ADA

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)- NHEJ1

Severe combined immunodeficiency, Athabascan type, 602450 (3)- DCLRE1C

Severe combined immunodeficiency, B cell-negative, 601457 (3)- RAG2

Severe combined immunodeficiency, B cell-negative, 601457 (3)- RAG1

Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)- PTPRC

Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)- IL7R

Severe combined immunodeficiency, X-linked, 300400 (3)- IL2RG

Shaheen syndrome, 615328 (3)- COG6

Shashi-Pena syndrome, 617190 (3)- ASXL2

Short QT syndrome 1, 609620 (3)- KCNH2

Short QT syndrome 2, 609621 (3)- KCNQ1

Short QT syndrome 3, 609622 (3)- KCNJ2

Short stature with microcephaly and distinctive facies, 615789 (3)- CRIPT

Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 (3)- SLC10A7

Short stature, idiopathic familial, 300582 (3)- SHOX

Short stature, microcephaly, and endocrine dysfunction, 616541 (3)- XRCC4

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)- POC1A

Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)- NBAS

SHORT syndrome, 269880 (3)- PIK3R1

Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)- DYNC2H1

Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)- IFT140

Shprintzen-Goldberg syndrome, 182212 (3)- SKI

Shwachman-Diamond syndrome, 260400 (3)- SBDS

Sialic acid storage disorder, infantile, 269920 (3)- SLC17A5

Sialidosis, type I, 256550 (3)- NEU1

Sialidosis, type II, 256550 (3)- NEU1

Sialuria, 269921 (3)- GNE

Sick sinus syndrome 1, 608567 (3)- SCN5A

Sick sinus syndrome 2, 163800 (3)- HCN4

Sick sinus syndrome 3, 614090 (3)- MYH6

Sickle cell anemia, 603903 (3)- HBB

Silver spastic paraplegia syndrome, 270685 (3)- BSCL2

Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)- GPC3

Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)- OFD1

Single median maxillary central incisor, 147250 (3)- SHH

Sinoatrial node dysfunction and deafness, 614896 (3)- CACNA1D

Sitosterolemia, 210250 (3)- ABCG5

Sitosterolemia, 210250 (3)- ABCG8

Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)- ZBTB16

Skin fragility-woolly hair syndrome, 607655 (3)- DSP

Skin/hair/eye pigmentation 1, blond/brown hair, 227220 (3)- HERC2

Skin/hair/eye pigmentation 1, blond/brown hair, 227220 (3)- OCA2

Skin/hair/eye pigmentation 1, blue/nonblue eyes, 227220 (3)- HERC2

Skin/hair/eye pigmentation 1, blue/nonblue eyes, 227220 (3)- OCA2

Skin/hair/eye pigmentation 2, blond hair/fair skin, 266300 (3)- MC1R

Skin/hair/eye pigmentation 2, red hair/fair skin, 266300 (3)- MC1R

Skin/hair/eye pigmentation 3, blue/green eyes, 601800 (3)- TYR

Skin/hair/eye pigmentation 3, light/dark/freckling skin, 601800 (3)- TYR

Skin/hair/eye pigmentation 7, blond/brown hair, 611664 (3)- KITLG

Skin/hair/eye pigmentation, variation in, 8, 611724 (3)- IRF4

Small cell cancer of the lung, somatic, 182280 (3)- RB1

Small fiber neuropathy, 133020 (3)- SCN9A

SMED Strudwick type, 184250 (3)- COL2A1

Smith-Kingsmore syndrome, 616638 (3)- MTOR

Smith-Lemli-Opitz syndrome, 270400 (3)- DHCR7

Smith-Magenis syndrome, 182290 (3)- RAI1

Snowflake vitreoretinal degeneration, 193230 (3)- KCNJ13

Sodium serum level QTL 1, 613508 (3)- TRPV4

Somatostatin analog, resistance to (3)- SSTR5

Sorsby fundus dystrophy, 136900 (3)- TIMP3

Sotos syndrome 1, 117550 (3)- NSD1

Sotos syndrome 2, 614753 (3)- NFIX

Spastic ataxia 5, autosomal recessive, 614487 (3)- AFG3L2

Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)- SACS

Spastic paralysis, infantile onset ascending, 607225 (3)- ALS2

Spastic paraplegia 10, autosomal dominant, 604187 (3)- KIF5A

Spastic paraplegia 11, autosomal recessive, 604360 (3)- SPG11

Spastic paraplegia 12, autosomal dominant, 604805 (3)- RTN2

Spastic paraplegia 13, autosomal dominant, 605280 (3)- HSPD1

Spastic paraplegia 15, autosomal recessive, 270700 (3)- ZFYVE26

Spastic paraplegia 18, autosomal recessive, 611225 (3)- ERLIN2

Spastic paraplegia 2, X-linked, 312920 (3)- PLP1

Spastic paraplegia 28, autosomal recessive, 609340 (3)- DDHD1

Spastic paraplegia 30, autosomal recessive, 610357 (3)- KIF1A

Spastic paraplegia 31, autosomal dominant, 610250 (3)- REEP1

Spastic paraplegia 33, autosomal dominant, 610244 (3)- ZFYVE27

Spastic paraplegia 35, autosomal recessive, 612319 (3)- FA2H

Spastic paraplegia 39, autosomal recessive, 612020 (3)- PNPLA6

Spastic paraplegia 3A, autosomal dominant, 182600 (3)- ATL1

Spastic paraplegia 4, autosomal dominant, 182601 (3)- SPAST

Spastic paraplegia 42, autosomal dominant, 612539 (3)- SLC33A1

Spastic paraplegia 44, autosomal recessive, 613206 (3)- GJC2

Spastic paraplegia 45, autosomal recessive, 613162 (3)- NT5C2

Spastic paraplegia 46, autosomal recessive, 614409 (3)- GBA2

Spastic paraplegia 47, autosomal recessive, 614066 (3)- AP4B1

Spastic paraplegia 48, autosomal recessive, 613647 (3)- AP5Z1

Spastic paraplegia 49, autosomal recessive, 615031 (3)- TECPR2

Spastic paraplegia 50, autosomal recessive, 612936 (3)- AP4M1

Spastic paraplegia 51, autosomal recessive, 613744 (3)- AP4E1

Spastic paraplegia 52, autosomal recessive, 614067 (3)- AP4S1

Spastic paraplegia 53, autosomal recessive, 614898 (3)- VPS37A

Spastic paraplegia 54, autosomal recessive, 615033 (3)- DDHD2

Spastic paraplegia 55, autosomal recessive, 615035 (3)- C12orf65

Spastic paraplegia 56, autosomal recessive, 615030 (3)- CYP2U1

Spastic paraplegia 5A, autosomal recessive, 270800 (3)- CYP7B1

Spastic paraplegia 6, autosomal dominant, 600363 (3)- NIPA1

Spastic paraplegia 64, autosomal recessive, 615683 (3)- ENTPD1

Spastic paraplegia 77, autosomal recessive, 617046 (3)- FARS2

Spastic paraplegia 78, autosomal recessive, 617225 (3)- ATP13A2

Spastic paraplegia 9A, autosomal dominant, 601162 (3)- ALDH18A1

Spastic paraplegia 9B, autosomal recessive, 616586 (3)- ALDH18A1

Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)- GLRX5

Speech-language disorder-1, 602081 (3)- FOXP2

Spermatocytic seminoma, somatic, 273300 (3)- FGFR3

Spermatogenic failure 11, 615081 (3)- KLHL10

Spermatogenic failure 12, 615413 (3)- NANOS1

Spermatogenic failure 28, 618086 (3)- FANCM

Spermatogenic failure 4, 270960 (3)- SYCP3

Spermatogenic failure 5, 243060 (3)- AURKC

Spermatogenic failure 7, 612997 (3)- CATSPER1

Spermatogenic failure 8, 613957 (3)- NR5A1

Spermatogenic failure 9, 613958 (3)- DPY19L2

Spermatogenic failure, Y-linked, 2, 415000 (3)- USP9Y

Spherocytosis, type 1, 182900 (3)- ANK1

Spherocytosis, type 2, 616649 (3)- SPTB

Spherocytosis, type 3, 270970 (3)- SPTA1

Spherocytosis, type 4, 612653 (3)- SLC4A1

Spherocytosis, type 5, 612690 (3)- EPB42

Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)- AR

Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)- ASAH1

Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)- PLEKHG5

Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)- DNAJB2

Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)- TRPV4

Spinal muscular atrophy, distal, X-linked 3, 300489 (3)- ATP7A

Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)- VAPB

Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)- DYNC1H1

Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)- UBA1

Spinal muscular atrophy-1, 253300 (3)- SMN1

Spinal muscular atrophy-2, 253550 (3)- SMN1

Spinal muscular atrophy-3, 253400 (3)- SMN1

Spinal muscular atrophy-4, 271150 (3)- SMN1

Spinocerebellar ataxia 1, 164400 (3)- ATXN1

Spinocerebellar ataxia 10, 603516 (3)- ATXN10

Spinocerebellar ataxia 11, 604432 (3)- TTBK2

Spinocerebellar ataxia 12, 604326 (3)- PPP2R2B

Spinocerebellar ataxia 13, 605259 (3)- KCNC3

Spinocerebellar ataxia 14, 605361 (3)- PRKCG

Spinocerebellar ataxia 15, 606658 (3)- ITPR1

Spinocerebellar ataxia 17, 607136 (3)- TBP

Spinocerebellar ataxia 19, 607346 (3)- KCND3

Spinocerebellar ataxia 2, 183090 (3)- ATXN2

Spinocerebellar ataxia 23, 610245 (3)- PDYN

Spinocerebellar ataxia 27, 609307 (3)- FGF14

Spinocerebellar ataxia 28, 610246 (3)- AFG3L2

Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)- ITPR1

Spinocerebellar ataxia 34, 133190 (3)- ELOVL4

Spinocerebellar ataxia 35, 613908 (3)- TGM6

Spinocerebellar ataxia 36, 614153 (3)- NOP56

Spinocerebellar ataxia 37, 615945 (3)- DAB1

Spinocerebellar ataxia 42, 616795 (3)- CACNA1G

Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)- CACNA1G

Spinocerebellar ataxia 44, 617691 (3)- GRM1

Spinocerebellar ataxia 5, 600224 (3)- SPTBN2

Spinocerebellar ataxia 6, 183086 (3)- CACNA1A

Spinocerebellar ataxia 7, 164500 (3)- ATXN7

Spinocerebellar ataxia 8, 608768 (3)- ATXN8OS

Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)- ANO10

Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)- GRM1

Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)- SPTBN2

Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)- TPP1

Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)- SYNE1

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3)- SETX

Spitz nevus or nevus spilus, somatic, 137550 (3)- HRAS

Spondyloarthropathy, susceptibility to, 1, 106300 (3)- HLA-B

Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)- CHST3

Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)- COL2A1

Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)- DDR2

Spondylometaphyseal dysplasia, axial, 602271 (3)- CFAP410

Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)- FN1

Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)- TRPV4

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)- PAM16

Spondyloperipheral dysplasia, 271700 (3)- COL2A1

Squamous cell carcinoma, burn scar-related, somatic (3)- FAS

Stapes ankylosis with broad thumbs and toes, 184460 (3)- NOG

Stargardt disease 1, 248200 (3)- ABCA4

Stargardt disease 3, 600110 (3)- ELOVL4

Stargardt disease 4, 603786 (3)- PROM1

Statins, attenuated cholesterol lowering by (3)- HMGCR

Stevens-Johnson syndrome, susceptibility to, 608579 (3)- HLA-B

Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)- COL2A1

Stickler syndrome, type I, 108300 (3)- COL2A1

Stickler syndrome, type II, 604841 (3)- COL11A1

Stickler syndrome, type IV, 614134 (3)- COL9A1

Stiff skin syndrome, 184900 (3)- FBN1

Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)- SHROOM4

Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)- SLC2A1

Stormorken syndrome, 185070 (3)- STIM1

Striatal degeneration, autosomal dominant, 609161 (3)- PDE8B

Striatonigral degeneration, infantile, 271930 (3)- NUP62

Stroke, hemorrhagic, 614519 (3)- ACE

Stroke, ischemic, susceptibility to, 601367 (3)- F2

Stroke, ischemic, susceptibility to, 601367 (3)- F5

Stroke, susceptibility to, 601367 (3)- ALOX5AP

Sturge-Weber syndrome, somatic, mosaic, 185300 (3)- GNAQ

Stuttering, familial persistent, 1, 184450 (3)- AP4E1

Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)- LIFR

Subcortical laminal heterotopia, X-linked, 300067 (3)- DCX

Subcortical laminar heterotopia, 607432 (3)- PAFAH1B1

Sublingual nitroglycerin, susceptibility to poor response to (3)- ALDH2

Succinic semialdehyde dehydrogenase deficiency, 271980 (3)- ALDH5A1

Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)- OXCT1

Sudden infant death syndrome, susceptibility to, 272120 (3)- SCN5A

Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)- TSPYL1

Sulfite oxidase deficiency, 272300 (3)- SUOX

Supranuclear palsy, progressive atypical, 260540 (3)- MAPT

Supranuclear palsy, progressive, 601104 (3)- MAPT

Supravalvar aortic stenosis, 185500 (3)- ELN

Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)- SFTPB

Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)- SFTPC

Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)- ABCA3

Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)- CSF2RA

Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)- CSF2RB

Sveinsson chorioretinal atrophy, 108985 (3)- TEAD1

Sweat chloride elevation without CF (3)- CFTR

Sweeney-Cox syndrome, 617746 (3)- TWIST1

Symphalangism, proximal, 1A, 185800 (3)- NOG

Symphalangism, proximal, 1B, 615298 (3)- GDF5

Syndactyly, type III, 186100 (3)- GJA1

Synovitis, chronic, susceptibility to (3)- HLA-B

Systemic lupus erythematosus, susceptibility to, 152700 (3)- CTLA4

Systemic lupus erythematosus, susceptibility to, 152700 (3)- TREX1

Systemic lupus erythematosus, susceptibility to, 2, 605218 (3)- PDCD1

Systemic lupus erythematosus, susceptibility to, 9, 610927 (3)- CR2

T

Tangier disease, 205400 (3)- ABCA1

TARP syndrome, 311900 (3)- RBM10

Tarsal-carpal coalition syndrome, 186570 (3)- NOG

Tatton-Brown-Rahman syndrome, 615879 (3)- DNMT3A

Tay-Sachs disease, 272800 (3)- HEXA

T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)- STK4

T-cell prolymphocytic leukemia, somatic (3)- ATM

Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)- ENG

Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)- ACVRL1

Temtamy syndrome, 218340 (3)- C12orf57

Terminal osseous dysplasia, 300244 (3)- FLNA

Testicular tumor, somatic, 273300 (3)- STK11

Tetralogy of Fallot, 187500 (3)- GATA4

Tetralogy of Fallot, 187500 (3)- GATA6

Tetralogy of Fallot, 187500 (3)- JAG1

Tetralogy of Fallot, 187500 (3)- NKX2-5

Tetralogy of Fallot, 187500 (3)- TBX1

Tetralogy of Fallot, 187500 (3)- ZFPM2

Thalassemia due to Hb Lepore (3)- HBD

Thalassemia, alpha-, 604131 (3)- HBA2

Thalassemia, beta, 613985 (3)- HBB

Thalassemia, delta- (3)- HBD

Thalassemia-beta, dominant inclusion-body, 603902 (3)- HBB

Thalassemias, alpha-, 604131 (3)- HBA1

Thanatophoric dysplasia, type I, 187600 (3)- FGFR3

Thanatophoric dysplasia, type II, 187601 (3)- FGFR3

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)- SLC19A3

Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)- SLC25A19

Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)- TPK1

Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)- SLC19A2

Thiopurines, poor metabolism of, 1, 610460 (3)- TPMT

Thrombocythemia 1, 187950 (3)- THPO

Thrombocythemia 2, 601977 (3)- MPL

Thrombocythemia 3, 614521 (3)- JAK2

Thrombocythemia, somatic, 187950 (3)- CALR

Thrombocythemia, somatic, 187950 (3)- SH2B3

Thrombocytopenia 2, 188000 (3)- ANKRD26

Thrombocytopenia 4, 612004 (3)- CYCS

Thrombocytopenia 5, 616216 (3)- ETV6

Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3)- GATA1

Thrombocytopenia, congenital amegakaryocytic, 604498 (3)- MPL

Thrombocytopenia, neonatal alloimmune (3)- ITGB3

Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)- ITGA2B

Thrombocytopenia, X-linked, 313900 (3)- WAS

Thrombocytopenia, X-linked, intermittent, 313900 (3)- WAS

Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3)- GATA1

Thrombocytopenia-absent radius syndrome, 274000 (3)- RBM8A

Thrombocytopenic purpura, autoimmune, 188030 (1)- FCGR2C

Thromboembolism, susceptibility to, 188050 (3)- MTHFR

Thrombophilia due to activated protein C resistance, 188055 (3)- F5

Thrombophilia due to antithrombin III deficiency, 613118 (3)- SERPINC1

Thrombophilia due to elevated HRG, 613116 (1)- HRG

Thrombophilia due to HRG deficiency, 613116 (3)- HRG

Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3)- PROC

Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)- PROC

Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)- PROS1

Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)- PROS1

Thrombophilia due to thrombin defect, 188050 (3)- F2

Thrombophilia due to thrombomodulin defect, 614486 (3)- THBD

Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)- PLAT

Thrombophilia, susceptibility to, due to factor V Leiden, 188055 (3)- F5

Thrombophilia, X-linked, due to factor IX defect, 300807 (3)- F9

Thrombosis, hyperhomocysteinemic, 236200 (3)- CBS

Thrombotic thrombocytopenic purpura, familial, 274150 (3)- ADAMTS13

Thyroid adenoma, hyperfunctioning, somatic (3)- TSHR

Thyroid cancer, nonmedullary, 1, 188550 (3)- NKX2-1

Thyroid cancer, nonmedullary, 4, 616534 (3)- FOXE1

Thyroid carcinoma with thyrotoxicosis (3)- TSHR

Thyroid carcinoma, follicular, 188470 (3)- MINPP1

Thyroid carcinoma, follicular, somatic, 188470 (3)- HRAS

Thyroid carcinoma, follicular, somatic, 188470 (3)- NRAS

Thyroid dyshormonogenesis 1, 274400 (3)- SLC5A5

Thyroid dyshormonogenesis 2A, 274500 (3)- TPO

Thyroid dyshormonogenesis 3, 274700 (3)- TG

Thyroid dyshormonogenesis 4, 274800 (3)- IYD

Thyroid dyshormonogenesis 5, 274900 (3)- DUOXA2

Thyroid dyshormonogenesis 6, 607200 (3)- DUOX2

Thyroid hormone metabolism, abnormal, 609698 (3)- SECISBP2

Thyroid hormone resistance, 188570 (3)- THRB

Thyroid hormone resistance, autosomal recessive, 274300 (3)- THRB

Thyroid hormone resistance, selective pituitary, 145650 (3)- THRB

Thyrotoxic periodic paralysis, susceptibility to, 1, 188580 (3)- CACNA1S

Thyrotoxic periodic paralysis, susceptibility to, 2, 613239 (3)- KCNJ18

Thyrotropin-releasing hormone deficiency, 275120 (1)- TRH

Thyrotropin-releasing hormone resistance, generalized (3)- TRHR

Tibial muscular dystrophy, tardive, 600334 (3)- TTN

Tietz albinism-deafness syndrome, 103500 (3)- MITF

Timothy syndrome, 601005 (3)- CACNA1C

Toenail dystrophy, isolated, 607523 (3)- COL7A1

Tolbutamide poor metabolizer (3)- CYP2C9

Tourette syndrome, 137580 (3)- SLITRK1

Townes-Brocks branchiootorenal-like syndrome, 107480 (3)- SALL1

Townes-Brocks syndrome 1, 107480 (3)- SALL1

Toxic epidermal necrolysis, susceptibility to, 608579 (3)- HLA-B

Transaldolase deficiency, 606003 (3)- TALDO1

Transcobalamin II deficiency, 275350 (3)- TCN2

Transferrin serum level QTL2, 614193 (3)- HFE

Transient bullous of the newborn, 131705 (3)- COL7A1

Transposition of the great arteries, dextro-looped 1, 608808 (3)- MED13L

Treacher Collins syndrome 1, 154500 (3)- TCOF1

Trichoepithelioma, multiple familial, 1, 601606 (3)- CYLD

Trichohepatoenteric syndrome 1, 222470 (3)- TTC37

Trichothiodystrophy 1, photosensitive, 601675 (3)- ERCC2

Trichothiodystrophy 2, photosensitive, 616390 (3)- ERCC3

Trifunctional protein deficiency, 609015 (3)- HADHA

Trifunctional protein deficiency, 609015 (3)- HADHB

Trigonocephaly 1, 190440 (3)- FGFR1

Trimethylaminuria, 602079 (3)- FMO3

Trismus-pseudocamptodactyly syndrome, 158300 (3)- MYH8

Tropical calcific pancreatitis, 608189 (3)- SPINK1

Trypsinogen deficiency, 614044 (1)- PRSS1

TSC2 angiomyolipomas, renal, modifier of, 613254 (3)- IFNG

Tuberculosis infection, protection against, 607948 (3)- IFNGR1

Tuberculosis, protection against, 607948 (3)- IFNG

Tuberculosis, susceptibility to, 607948 (3)- IFNGR1

Tuberous sclerosis-1, 191100 (3)- TSC1

Tuberous sclerosis-2, 613254 (3)- TSC2

Tumor predisposition syndrome, 614327 (3)- BAP1

Tumoral calcinosis, familial, normophosphatemic, 610455 (3)- SAMD9

Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3)- GALNT3

Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)- FGF23

Tylosis with esophageal cancer, 148500 (3)- RHBDF2

Tyrosinemia, type I, 276700 (3)- FAH

Tyrosinemia, type II, 276600 (3)- TAT

Tyrosinemia, type III, 276710 (3)- HPD

U

Ullrich congenital muscular dystrophy 1, 254090 (3)- COL6A1

Ullrich congenital muscular dystrophy 1, 254090 (3)- COL6A2

Ullrich congenital muscular dystrophy 1, 254090 (3)- COL6A3

Ulnar-mammary syndrome, 181450 (3)- TBX3

Unipolar depression, susceptibility to, 608516 (3)- TPH2

Urbach-Wiethe disease, 247100 (3)- ECM1

Uric acid concentration, serum, QTL 2, 612076 (3)- SLC2A9

Uric acid concentration, serum, QTL1, 138900 (3)- ABCG2

Usher syndrome type 3B, 614504 (3)- HARS

Usher syndrome, type 1B, 276900 (3)- MYO7A

Usher syndrome, type 1C, 276904 (3)- USH1C

Usher syndrome, type 1D, 601067 (3)- CDH23

Usher syndrome, type 1D/F digenic, 601067 (3)- CDH23

Usher syndrome, type 1D/F digenic, 601067 (3)- PCDH15

Usher syndrome, type 1F, 602083 (3)- PCDH15

Usher syndrome, type 2A, 276901 (3)- USH2A

Usher syndrome, type 2C, 605472 (3)- ADGRV1

Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3)- ADGRV1

Usher syndrome, type 2D, 611383 (3)- WHRN

Usher syndrome, type 3A, 276902 (3)- CLRN1

Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)- PDZD7

Usher syndrome, type IJ, 614869 (3)- CIB2

UV-induced skin damage, 266300 (3)- MC1R

UV-sensitive syndrome 2, 614621 (3)- ERCC8

V

VACTERL association, X-linked, 314390 (3)- ZIC3

Van Buchem disease, 239100 (3)- SOST

van Buchem disease, type 2, 607636 (3)- LRP5

Vascular disease, susceptibility to (3)- MTHFR

Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)- TREX1

Velocardiofacial syndrome, 192430 (3)- TBX1

Venous thrombosis, protection against, 188050 (3)- F13A1

Ventricular fibrillation, familial, 1, 603829 (3)- SCN5A

Ventricular fibrillation, paroxysmal familial, 2, 612956 (3)- DPP6

Ventricular septal defect 1, 614429 (3)- GATA4

Ventricular septal defect 2, 614431 (3)- CITED2

Ventricular septal defect 3, 614432 (3)- NKX2-5

Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)- RYR2

Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)- CASQ2

Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)- CALM1

Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)- TRDN

Ventricular tachycardia, idiopathic, 192605 (3)- GNAI2

Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)- TBX2

Vertical talus, congenital, 192950 (3)- HOXD10

Vesicoureteral reflux 2, 610878 (3)- ROBO2

Vesicoureteral reflux 8, 615963 (3)- TNXB

Vitamin B12 plasma level QTL1, 612542 (3)- FUT2

Vitamin D-dependent rickets, type I, 264700 (3)- CYP27B1

Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)- GGCX

Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)- VKORC1

Vitreoretinochoroidopathy, 193220 (3)- BEST1

Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)- COL2A1

Vitreoretinopathy, neovascular inflammatory, 193235 (3)- CAPN5

VLCAD deficiency, 201475 (3)- ACADVL

Vohwinkel syndrome with ichthyosis, 604117 (3)- LOR

Vohwinkel syndrome, 124500 (3)- GJB2

von Hippel-Lindau syndrome, 193300 (3)- VHL

von Hippel-Lindau syndrome, modifier of, 193300 (3)- CCND1

von Willebrand disease, platelet-type, 177820 (3)- GP1BA

von Willebrand disease, type 1, 193400 (3)- VWF

von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)- VWF

von Willibrand disease, type 3, 277480 (3)- VWF

W

Waardenburg syndrome, type 1, 193500 (3)- PAX3

Waardenburg syndrome, type 2A, 193510 (3)- MITF

Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)- SOX10

Waardenburg syndrome, type 3, 148820 (3)- PAX3

Waardenburg syndrome, type 4A, 277580 (3)- EDNRB

Waardenburg syndrome, type 4B, 613265 (3)- EDN3

Waardenburg syndrome, type 4C, 613266 (3)- SOX10

Waardenburg syndrome/albinism, digenic, 103470 (3)- TYR

Waardenburg syndrome/ocular albinism, digenic, 103470 (3)- MITF

Wagner syndrome 1, 143200 (3)- VCAN

Warburg micro syndrome 1, 600118 (3)- RAB3GAP1

Warburg micro syndrome 2, 614225 (3)- RAB3GAP2

Warburg micro syndrome 3, 614222 (3)- RAB18

Warburg-Cinotti syndrome, 618175 (3)- DDR2

Warfarin resistance, 122700 (3)- VKORC1

Warfarin sensitivity, 122700 (3)- CYP2C9

Warfarin sensitivity, 122700 (3)- F9

Warsaw breakage syndrome, 613398 (3)- DDX11

Watson syndrome, 193520 (3)- NF1

Weaver syndrome, 277590 (3)- EZH2

Weill-Marchesani syndrome 1, recessive, 277600 (3)- ADAMTS10

Weill-Marchesani syndrome 2, dominant, 608328 (3)- FBN1

Welander distal myopathy, 604454 (3)- TIA1

West nile virus, susceptibility to, 610379 (3)- CCR5

WHIM syndrome, 193670 (3)- CXCR4

White-Sutton syndrome, 616364 (3)- POGZ

Wiedemann-Rautenstrauch syndrome, 264090 (3)- POLR3A

Wiedemann-Steiner syndrome, 605130 (3)- KMT2A

Wilms tumor, 194070 (3)- BRCA2

Wilms tumor, somatic, 194070 (3)- GPC3

Wilms tumor, type 1, 194070 (3)- WT1

Wilson disease, 277900 (3)- ATP7B

Wiskott-Aldrich syndrome, 301000 (3)- WAS

Wolff-Parkinson-White syndrome, 194200 (3)- PRKAG2

Wolfram syndrome 1, 222300 (3)- WFS1

Wolfram syndrome 2, 604928 (3)- CISD2

Wolfram-like syndrome, autosomal dominant, 614296 (3)- WFS1

Wolman disease, 278000 (3)- LIPA

Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3)- LPAR6

Wrinkly skin syndrome, 278250 (3)- ATP6V0A2

X

Xanthinuria, type I, 278300 (3)- XDH

Xeroderma pigmentosum, group A, 278700 (3)- XPA

Xeroderma pigmentosum, group B, 610651 (3)- ERCC3

Xeroderma pigmentosum, group C, 278720 (3)- XPC

Xeroderma pigmentosum, group D, 278730 (3)- ERCC2

Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)- DDB2

Xeroderma pigmentosum, group F, 278760 (3)- ERCC4

Xeroderma pigmentosum, group G, 278780 (3)- ERCC5

Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)- ERCC5

Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)- ERCC4

Xeroderma pigmentosum, variant type, 278750 (3)- POLH

XFE progeroid syndrome, 610965 (3)- ERCC4

Y

You-Hoover-Fong syndrome, 616954 (3)- TELO2

Yunis-Varon syndrome, 216340 (3)- FIG4

Z

Search

External Links

Site Statistics

No. of genes :	2866
No. of labs :	33
No. of tests :	5358

The RCPA is the leading organisation representing Pathologists and Senior Scientists in Australasia.

Its mission is to train and support pathologists and senior scientists and to improve the use of pathology testing to achieve better healthcare.

Quick Links

Pathology Update 2019

The annual scientific meeting for the RCPA which covers the scientific disciplines of Anatomical, Chemical, Forensic, Genetic, General, Haematology, Immunopathology and Microbiology.

Copyright © 2019 RCPA. All rights reserved.