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

Accelerated tumor formation, susceptibility to, 614401 (3)- MDM2

Acetylation, slow, 243400 (3)- NAT2

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

Achondrogenesis, type IA, 200600 (3)- TRIP11

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

Adenomas, salivary gland pleomorphic, somatic, 181030 (3)- PLAG1

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

ADULT syndrome, 103285 (3)- TP63

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

Aerodigestive tract cancer, squamous cell, alcohol-related, protection against, 103780 (3)- ADH1B

Afibrinogenemia, congenital, 202400 (3)- FGA

Afibrinogenemia, congenital, 202400 (3)- FGB

Afibrinogenemia, congenital, 202400 (3)- FGG

Agammaglobulinemia 1, 601495 (3)- IGHM

Agammaglobulinemia 3, 613501 (3)- CD79A

Agammaglobulinemia 6, 612692 (3)- CD79B

Agammaglobulinemia 8, autosomal dominant, 616941 (3)- TCF3

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

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, 618929 (3)- CDH2

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

Agnathia-otocephaly complex, 202650 (3)- PRRX1

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, protection against, 103780 (3)- ADH1B

Alcohol dependence, protection against, 103780 (3)- ADH1C

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-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

Alveolar soft-part sarcoma, 606243 (3)- ASPSCR1

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

Alzheimer disease 2, 104310 (3)- APOE

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-4, 606889 (3)- PSEN2

Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360 (3)- TBX4

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

Aortic valve disease 8, 618496 (3)- ROBO4

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, 618463 (3)- APOA1

Apolipoprotein A-II deficiency (3)- APOA2

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

Apparent mineralocorticoid excess, 218030 (3)- HSD11B2

Arboleda-Tham syndrome, 616268 (3)- KAT6A

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

Arrhythmogenic right ventricular dysplasia, familial, 14, 618920 (3)- CDH2

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 multiplex congenita 3, myogenic type, 618484 (3)- SYNE1

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, diminished response to antileukotriene treatment in, 600807 (3)- ALOX5

Asthma, nocturnal, susceptibility to, 600807 (3)- ADRB2

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)- ALOX5

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, 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 with arthritis and dyskeratosis, 617388 (3)- NLRP1

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

Autoinflammation, immune dysregulation, and eosinophilia, 618999 (3)- JAK1

Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)- TNFAIP3

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