0-9
17,20-lyase deficiency, isolated, 202110 (3)- CYP17A1
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)- CYP17A1
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)- HIBCH
3-methylglutaconic aciduria, type III, 258501 (3)- OPA3
46, XX sex reversal 4, 617480 (3)- NR5A1
46XX sex reversal 1, 400045 (3)- 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
5-fluorouracil toxicity, 274270 (3)- DPYD
A
Abacavir hypersensitivity, susceptibility to (3)- HLA-B
Abdominal obesity-metabolic syndrome 3, 615812 (3)- DYRK1B
Acampomelic campomelic dysplasia, 114290 (3)- SOX9
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
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
Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)- ACADM
Adams-Oliver syndrome 5, 616028 (3)- NOTCH1
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
Adenoma, periampullary, somatic (3)- APC
Adenomas, multiple colorectal, 608456 (3)- MUTYH
Adenomatous polyposis coli, 175100 (3)- APC
Adenosine deaminase deficiency, partial, 102700 (3)- ADA
Adenylosuccinase deficiency, 103050 (3)- ADSL
Adrenal adenoma, somatic (3)- MEN1
Adrenal cortical carcinoma, 202300 (3)- TP53
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 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
Agammaglobulinemia and isolated hormone deficiency, 307200 (3)- BTK
Agammaglobulinemia, X-linked 1, 300755 (3)- BTK
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)- TREX1
Alagille syndrome 1, 118450 (3)- JAG1
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
Aldosteronism, glucocorticoid-remediable, 103900 (3)- CYP11B1
Alopecia universalis, 203655 (3)- HR
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)- RAG1
Alport syndrome, 301050 (3)- COL4A5
Alstrom syndrome, 203800 (3)- ALMS1
Alternating hemiplegia of childhood 1, 104290 (3)- ATP1A2
Alzheimer disease 1, familial, 104300 (3)- APP
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
Amyloidosis, 3 or more types, 105200 (3)- APOA1
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 12, 613435 (3)- OPTN
Amyotrophic lateral sclerosis 19, 615515 (3)- ERBB4
Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)- SETX
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)- FUS
Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 (3)- ATXN2
Analbuminemia, 616000 (3)- ALB
Analgesia from kappa-opioid receptor agonist, female-specific, 613098 (3)- MC1R
Andersen syndrome, 170390 (3)- KCNJ2
Androgen insensitivity, 300068 (3)- AR
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)- AR
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
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
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 valve disease 1, 109730 (3)- NOTCH1
Apert syndrome, 101200 (3)- FGFR2
Aplastic anemia, 609135 (3)- NBN
Aplastic anemia, 609135 (3)- PRF1
Aplastic anemia, susceptibility to, 609135 (3)- SBDS
ApoA-I and apoC-III deficiency, combined (3)- APOA1
Apparent mineralocorticoid excess, 218030 (3)- HSD11B2
Argininosuccinic aciduria, 207900 (3)- ASL
Aromatase deficiency, 613546 (3)- CYP19A1
Aromatase excess syndrome, 139300 (3)- CYP19A1
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
Arterial calcification, generalized, of infancy, 2, 614473 (3)- ABCC6
Arteriovenous malformation of the brain, somatic, 108010 (3)- KRAS
Arts syndrome, 301835 (3)- PRPS1
Ataxia with isolated vitamin E deficiency, 277460 (3)- TTPA
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)- APTX
Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)- FLVCR1
Ataxia-telangiectasia, 208900 (3)- ATM
Athabaskan brainstem dysgenesis syndrome, 601536 (3)- HOXA1
Atherosclerosis, susceptibility to (3)- ESR1
Atrial fibrillation, familial, 10, 614022 (3)- SCN5A
Atrial fibrillation, familial, 12, 614050 (3)- ABCC9
Atrial fibrillation, familial, 13, 615377 (3)- SCN1B
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, 9, 613980 (3)- KCNJ2
Atrial septal defect 2, 607941 (3)- GATA4
Atrial septal defect 3, 614089 (3)- MYH6
Atrial septal defect 5, 612794 (3)- ACTC1
Atrial septal defect 7, with or without AV conduction defects, 108900 (3)- NKX2-5
Atrial septal defect 9, 614475 (3)- GATA6
Atrichia with papular lesions, 209500 (3)- HR
Atrioventricular septal defect 4, 614430 (3)- GATA4
Atrioventricular septal defect 5, 614474 (3)- GATA6
Auditory neuropathy, autosomal recessive, 1, 601071 (3)- OTOF
Autism susceptibility, X-linked 3, 300496 (3)- MECP2
Autoimmune lymphoproliferative syndrome, 601859 (3)- FAS
Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)- FAS
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
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
Ayme-Gripp syndrome, 601088 (3)- MAF
B
Baller-Gerold syndrome, 218600 (3)- RECQL4
Bamforth-Lazarus syndrome, 241850 (3)- FOXE1
Bannayan-Riley-Ruvalcaba syndrome, 153480 (3)- PTEN
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 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
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 4b, digenic, 613090 (3)- CLCNKA
Basal cell carcinoma 7, 614740 (3)- TP53
Basal cell carcinoma, somatic, 605462 (3)- PTCH1
Basal cell carcinoma, somatic, 605462 (3)- PTCH2
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, 4, 615007 (3)- PDGFRB
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
Beryllium disease, chronic, susceptibility to (3)- HLA-DPB1
Bestrophinopathy, autosomal recessive, 611809 (3)- BEST1
Bietti crystalline corneoretinal dystrophy, 210370 (3)- CYP4V2
Bilirubin, serum level of, QTL1, 601816 (3)- UGT1A1
Biotinidase deficiency, 253260 (3)- BTD
Birt-Hogg-Dube syndrome, 135150 (3)- FLCN
Bladder cancer, somatic, 109800 (3)- FGFR3
Bladder cancer, somatic, 109800 (3)- KRAS
Bladder cancer, somatic, 109800 (3)- RB1
Bladder cancer, somatic, 109800 (3)- HRAS
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
Blood group, Ii, 110800 (3)- GCNT2
Blue cone monochromacy, 303700 (3)- OPN1LW
Blue cone monochromacy, 303700 (3)- OPN1MW
Bone mineral density variability 1, 601884 (3)- LRP5
Bone mineral density variation QTL, osteoporosis, 166710 (3)- COL1A1
Bosley-Salih-Alorainy syndrome, 601536 (3)- HOXA1
Bothnia retinal dystrophy, 607475 (3)- RLBP1
Brachydactyly, type A1, C, 615072 (3)- GDF5
Brachydactyly, type A2, 112600 (3)- GDF5
Brachydactyly, type B1, 113000 (3)- ROR2
Brachydactyly, type C, 113100 (3)- GDF5
Bradyopsia, 608415 (3)- RGS9
Bradyopsia, 608415 (3)- RGS9BP
Brain small vessel disease with or without ocular anomalies, 607595 (3)- COL4A1
Brain tumor-polyposis syndrome 2, 175100 (3)- APC
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, 114480 (1)- ESR1
Breast cancer, 114480 (3)- TP53
Breast cancer, early-onset, 114480 (3)- BRIP1
Breast cancer, lobular, 114480 (3)- CDH1
Breast cancer, male, susceptibility to, 114480 (3)- BRCA2
Breast cancer, somatic, 114480 (3)- AKT1
Breast cancer, somatic, 114480 (3)- KRAS
Breast cancer, somatic, 114480 (3)- PIK3CA
Breast cancer, somatic, 114480 (3)- PPM1D
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
Bronchiectasis with or without elevated sweat chloride 1, modifier of, 211400 (3)- CFTR
Brooke-Spiegler syndrome, 605041 (3)- CYLD
Bruck syndrome 1, 259450 (3)- FKBP10
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 6, 613119 (3)- KCNE3
Brugada syndrome 7, 613120 (3)- SCN3B
Brugada syndrome 8, 613123 (3)- HCN4
Budd-Chiari syndrome, 600880 (3)- F5
Budd-Chiari syndrome, somatic, 600880 (3)- JAK2
C
Caffey disease, 114000 (3)- COL1A1
Campomelic dysplasia with autosomal sex reversal, 114290 (3)- SOX9
Campomelic dysplasia, 114290 (3)- SOX9
Canavan disease, 271900 (3)- ASPA
Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3)- GNAQ
Carcinoid tumor of lung (3)- MEN1
Cardiac arrhythmia, ankyrin-B-related, 600919 (3)- ANK2
Cardiac conduction defect, nonspecific, 612838 (3)- SCN1B
Cardiofaciocutaneous syndrome 2, 615278 (3)- KRAS
Cardiofaciocutaneous syndrome 3, 615279 (3)- MAP2K1
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, 1D, 601494 (3)- TNNT2
Cardiomyopathy, dilated, 1E, 601154 (3)- SCN5A
Cardiomyopathy, dilated, 1EE, 613252 (3)- MYH6
Cardiomyopathy, dilated, 1FF, 613286 (3)- TNNI3
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, 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, 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 restrictive, 1, 115210 (3)- TNNI3
Cardiomyopathy, familial restrictive, 3, 612422 (3)- TNNT2
Cardiomyopathy, hypertrophic 6, 600858 (3)- PRKAG2
Cardiomyopathy, hypertrophic, 1, 192600 (3)- MYH7
Cardiomyopathy, hypertrophic, 10, 608758 (3)- MYL2
Cardiomyopathy, hypertrophic, 11, 612098 (3)- ACTC1
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, 18, 613874 (3)- PLN
Cardiomyopathy, hypertrophic, 2, 115195 (3)- TNNT2
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)- ACTN2
Cardiomyopathy, hypertrophic, 24, 601493 (3)- LDB3
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
Carotid intimal medial thickness 1, 609338 (3)- PPARG
Carpal tunnel syndrome, familial, 115430 (3)- TTR
Cataract 1, multiple types, 116200 (3)- GJA8
Cataract 10, multiple types, 600881 (3)- CRYBA1
Cataract 11, multiple types, 610623 (3)- PITX3
Cataract 11, syndromic, 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
Celiac disease, susceptibility to, 212750 (3)- HLA-DQA1
Celiac disease, susceptibility to, 212750 (3)- HLA-DQB1
Celiac disease, susceptibility to, 3, 609755 (3)- CTLA4
Cenani-Lenz syndactyly syndrome, 212780 (3)- LRP4
Central core disease, 117000 (3)- RYR1
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
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, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)- APP
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)- NOTCH3
Cerebrooculofacioskeletal syndrome 3, 616570 (3)- ERCC5
Cerebrotendinous xanthomatosis, 213700 (3)- CYP27A1
Ceroid lipofuscinosis, neuronal, 1, 256730 (3)- PPT1
Ceroid lipofuscinosis, neuronal, 3, 204200 (3)- CLN3
Cervical cancer, somatic, 603956 (3)- FGFR3
Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)- DNM2
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 2W, 616625 (3)- HARS
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)- DNM2
Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)- MPZ
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)- INF2
Charcot-Marie-Tooth disease, type 1A, 118220 (3)- PMP22
Charcot-Marie-Tooth disease, type 1B, 118200 (3)- MPZ
Charcot-Marie-Tooth disease, type 1E, 118300 (3)- PMP22
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)- LMNA
Charcot-Marie-Tooth disease, type 2I, 607677 (3)- MPZ
Charcot-Marie-Tooth disease, type 2J, 607736 (3)- MPZ
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
Cherubism, 118400 (3)- SH3BP2
Chilblain lupus, 610448 (3)- TREX1
Cholestasis, progressive familial intrahepatic 4, 615878 (3)- TJP2
Cholesteryl ester storage disease, 278000 (3)- LIPA
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
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, 14, 613807 (3)- CCDC39
Ciliary dyskinesia, primary, 15, 613808 (3)- CCDC40
Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)- DNAH5
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
Citrullinemia, adult-onset type II, 603471 (3)- SLC25A13
Citrullinemia, type II, neonatal-onset, 605814 (3)- SLC25A13
CLOVE syndrome, somatic, 612918 (3)- PIK3CA
COACH syndrome, 216360 (3)- CC2D2A
COACH syndrome, 216360 (3)- RPGRIP1L
Codeine sensitivity, 608902 (3)- CYP2D6
Coffin-Lowry syndrome, 303600 (3)- RPS6KA3
Coffin-Siris syndrome 3, 614608 (3)- SMARCB1
Coffin-Siris syndrome 5, 616938 (3)- SMARCE1
Cold-induced sweating syndrome 3, 617055 (3)- KLHL7
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)- 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
Combined cellular and humoral immune defects with granulomas, 233650 (3)- RAG1
Combined cellular and humoral immune defects with granulomas, 233650 (3)- RAG2
Combined immunodeficiency, X-linked, moderate, 312863 (3)- IL2RG
Combined oxidative phosphorylation deficiency 17, 615440 (3)- ELAC2
COMMAD syndrome, 617306 (3)- MITF
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 disorder of glycosylation, type Ia, 212065 (3)- PMM2
Congenital myopathy with excess of muscle spindles, 218040 (3)- HRAS
Conotruncal heart malformations, variable, 217095 (3)- NKX2-5
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, 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 5, 300882 (3)- HDAC8
Coronary artery disease in familial hypercholesterolemia, protection against, 143890 (3)- ABCA1
Coronary artery disease, severe, susceptibility to, 617347 (3)- APOE
Coronary artery disease, susceptibility to (1)- LPA
Coronary artery disease, susceptibility to (3)- IRS1
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
Cortisone reductase deficiency 1, 604931 (3)- H6PD
Cortisone reductase deficiency 2, 614662 (3)- HSD11B1
Costello syndrome, 218040 (3)- HRAS
Cowden syndrome 1, 158350 (3)- PTEN
Cowden syndrome 4, 615107 (3)- KLLN
Cowden syndrome 5, 615108 (3)- PIK3CA
Cowden syndrome 6, 615109 (3)- AKT1
Craniofacial-deafness-hand syndrome, 122880 (3)- PAX3
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)- FGFR2
Craniosynostosis 1, 123100 (3)- TWIST1
Craniosynostosis, nonspecific (3)- FGFR2
CRASH syndrome, 303350 (3)- L1CAM
Creatine phosphokinase, elevated serum, 123320 (3)- CAV3
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
Crouzon syndrome with acanthosis nigricans, 612247 (3)- FGFR3
Crouzon syndrome, 123500 (3)- FGFR2
Cryptorchidism, 219050 (3)- INSL3
Culler-Jones syndrome, 615849 (3)- GLI2
Currarino syndrome, 176450 (3)- MNX1
Cutis laxa, autosomal dominant 3, 616603 (3)- ALDH18A1
Cutis laxa, autosomal dominant, 123700 (3)- ELN
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)- ALDH18A1
Cylindromatosis, familial, 132700 (3)- CYLD
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
Czech dysplasia, 609162 (3)- COL2A1
D
D-2-hydroxyglutaric aciduria 2, 613657 (3)- IDH2
Danon disease, 300257 (3)- LAMP2
Darier disease, 124200 (3)- ATP2A2
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 6/14/38, 600965 (3)- WFS1
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 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 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 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
Debrisoquine sensitivity, 608902 (3)- CYP2D6
Deep venous thrombosis, protection against, 300807 (3)- F9
Dejerine-Sottas disease, 145900 (3)- MPZ
Dejerine-Sottas disease, 145900 (3)- PMP22
Delta-beta thalassemia, 141749 (3)- HBB
Dementia, frontotemporal, 600274 (3)- PSEN1
Dementia, frontotemporal, with or without parkinsonism, 600274 (3)- MAPT
Dementia, Lewy body, 127750 (3)- SNCA
Dent disease 2, 300555 (3)- OCRL
Dentatorubro-pallidoluysian atrophy, 125370 (3)- ATN1
Denys-Drash syndrome, 194080 (3)- WT1
Dermatopathia pigmentosa reticularis, 125595 (3)- KRT14
Desmoid disease, hereditary, 135290 (3)- APC
Developmental delay and seizures with or without movement abnormalities, 617836 (3)- DHDDS
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, 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, 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, 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, transient neonatal, 601410 (1)- PLAGL1
Diabetes mellitus, type 2, 125853 (3)- PAX4
Diabetes mellitus, type 2, susceptibility to, 125853 (3)- KCNJ11
Diabetes mellitus, type I, susceptibility to, 222100 (3)- FOXP3
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, 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 5, 612528 (3)- RPL35A
Diamond-Blackfan anemia 7, 612562 (3)- RPL11
Diamond-Blackfan anemia 8, 612563 (3)- RPS7
Diamond-Blackfan anemia 9, 613308 (3)- RPS10
Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)- MTAP
Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)- EPCAM
Diarrhea 6, 614616 (3)- GUCY2C
Dihydrolipoamide dehydrogenase deficiency, 246900 (3)- DLD
Dihydropyrimidine dehydrogenase deficiency, 274270 (3)- DPYD
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)- DSP
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)- POR
Donnai-Barrow syndrome, 222448 (3)- LRP2
Dowling-Degos disease 1, 179850 (3)- KRT5
Doyne honeycomb degeneration of retina, 126600 (3)- EFEMP1
Dravet syndrome, modifier of, 607208 (3)- SCN9A
Drug-induced liver injury due to flucloxacillin (3)- HLA-B
Du Pan syndrome, 228900 (3)- GDF5
Duane retraction syndrome 2, 604356 (3)- CHN1
Duane-radial ray syndrome, 607323 (3)- SALL4
Duchenne muscular dystrophy, 310200 (3)- DMD
Dysalbuminemic hyperthyroxinemia, 615999 (3)- ALB
Dyskeratosis congenita, autosomal dominant 2, 613989 (3)- TERT
Dyskeratosis congenita, autosomal recessive 4, 613989 (3)- TERT
Dyskeratosis congenita, X-linked, 305000 (3)- DKC1
Dysprothrombinemia, 613679 (3)- F2
Dystonia 6, torsion, 602629 (3)- THAP1
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)- GCH1
Dystonia-11, myoclonic, 159900 (3)- SGCE
Dystonia-Parkinsonism, X-linked, 314250 (3)- TAF1
Dystransthyretinemic hyperthyroxinemia, 145680 (3)- TTR
E
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, anhidrotic, with T-cell immunodeficiency, 612132 (3)- NFKBIA
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)- CDH3
Ectodermal dysplasia/short stature syndrome, 616029 (3)- GRHL2
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
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
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)- EMD
Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)- LMNA
Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3)- LMNA
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, neonatal severe, 300673 (3)- MECP2
Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)- TBCE
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
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, Dowling-Meara type, 131760 (3)- KRT14
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)- KRT5
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)- KRT5
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)- KRT14
Epidermolysis bullosa simplex-MCR, 609352 (3)- KRT5
Epidermolysis bullosa simplex-MP, 131960 (3)- KRT5
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)- LAMB3
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- ITGB4
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- LAMB3
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)- ITGB4
Epidermolysis bullosa, lethal acantholytic, 609638 (3)- DSP
Epidermolysis bullosa, pretibial, 131850 (3)- COL7A1
Epilepsy idiopathic generalized, susceptibility to, 8, 612899 (3)- CASR
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 7, 613863 (3)- SCN9A
Epilepsy, juvenile myoclonic, susceptibility to, 10, 617924 (3)- ICK
Epileptic encephalopathy, early infantile, 42, 617106 (3)- CACNA1A
Epileptic encephalopathy, early infantile, 52, 617350 (3)- SCN1B
Epileptic encephalopathy, early infantile, 58, 617830 (3)- NTRK2
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)- SCN1A
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)- COL2A1
Episodic ataxia, type 2, 108500 (3)- CACNA1A
Erythermalgia, primary, 133020 (3)- SCN9A
Erythrocytosis 6, 617980 (3)- HBB
Erythrocytosis 7, 617981 (3)- HBA2
Erythrocytosis, familial, 1, 133100 (3)- EPOR
Erythrocytosis, familial, 2, 263400 (3)- VHL
Erythrocytosis, familial, 5, 617907 (3)- EPO
Erythrocytosis, somatic, 133100 (3)- JAK2
Erythrocytosis, somatic, 133100 (3)- SH2B3
Erythrokeratodermia variabilis et progressiva 1, 133200 (3)- GJB3
Esophageal cancer, somatic, 133239 (3)- TGFBR2
Essential tremor, hereditary, 4, 614782 (3)- FUS
Estrogen resistance, 615363 (3)- ESR1
Ewing sarcoma, 612219 (3)- EWSR1
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
Factor V deficiency, 227400 (3)- F5
Factor XII deficiency, 234000 (3)- F12
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
Febrile seizures, familial, 3A, 604403 (3)- SCN1A
Febrile seizures, familial, 3B, 613863 (3)- SCN9A
Fetal akinesia deformation sequence, 208150 (3)- RAPSN
Fibrocalculous pancreatic diabetes, susceptibility to, 608189 (3)- SPINK1
Fibrochondrogenesis 1, 228520 (3)- COL11A1
Fibrochondrogenesis 2, 614524 (3)- COL11A2
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
Fleck retina, familial benign, 228980 (3)- PLA2G5
Focal cortical dysplasia, type II, somatic, 607341 (3)- TSC1
Focal dermal hypoplasia, 305600 (3)- PORCN
Foveal hypoplasia 1, 136520 (3)- PAX6
Fragile X syndrome, 300624 (3)- FMR1
Fragile X tremor/ataxia syndrome, 300623 (3)- FMR1
Frasier syndrome, 136680 (3)- WT1
Friedreich ataxia with retained reflexes, 229300 (3)- FXN
Friedreich ataxia, 229300 (3)- FXN
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, TARDBP-related, 612069 (3)- TARDBP
Fructose intolerance, hereditary, 229600 (3)- ALDOB
Fumarase deficiency, 606812 (3)- FH
Fundus albipunctatus, 136880 (3)- RDH5
Fundus albipunctatus, 136880 (3)- RLBP1
Fundus flavimaculatus, 248200 (3)- ABCA4
G
Galactokinase deficiency with cataracts, 230200 (3)- GALK1
Galactosemia, 230400 (3)- GALT
Gallbladder disease 4, 611465 (3)- ABCG8
GAPO syndrome, 230740 (3)- ANTXR1
Gardner syndrome, 175100 (3)- APC
Gastric cancer, familial 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)- MUTYH
Gastric cancer, somatic, 613659 (3)- PIK3CA
Gastrointestinal stromal tumor, 606444 (3)- SDHB
Gastrointestinal stromal tumor, 606764 (3)- SDHC
Gastrointestinal stromal tumor, familial, 606764 (3)- KIT
Gastrointestinal stromal tumor, somatic, 606764 (3)- PDGFRA
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
Geleophysic dysplasia 2, 614185 (3)- FBN1
Germ cell tumors, somatic, 273300 (3)- KIT
Gigantism due to GHRF hypersecretion (1)- GHRH
Gilbert syndrome, 143500 (3)- UGT1A1
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 to, somatic, 137800 (3)- IDH1
Glomerulosclerosis, focal segmental, 5, 613237 (3)- INF2
Glomerulosclerosis, focal segmental, 7, 616002 (3)- PAX2
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
Glycine encephalopathy, 605899 (3)- AMT
Glycine encephalopathy, 605899 (3)- GLDC
Glycogen storage disease Ia, 232200 (3)- G6PC
Glycogen storage disease II, 232300 (3)- GAA
Glycogen storage disease IV, 232500 (3)- GBE1
Glycogen storage disease of heart, lethal congenital, 261740 (3)- PRKAG2
GM2-gangliosidosis, several forms, 272800 (3)- HEXA
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)- DICER1
Gout, PRPS-related, 300661 (3)- PRPS1
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 IB, 612781 (3)- GHRHR
Growth hormone deficiency, isolated, type II, 173100 (3)- GH1
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
HARP syndrome, 607236 (3)- PANK2
Hartsfield syndrome, 615465 (3)- FGFR1
Hashimoto thyroiditis, 140300 (3)- CTLA4
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
Heinz body anemia, 140700 (3)- HBA2
Heinz body anemia, 140700 (3)- HBB
Hemangioblastoma, cerebellar, somatic (3)- VHL
Hemangioma, capillary infantile, somatic, 602089 (3)- KDR
Hemangioma, capillary infantile, susceptibility to, 602089 (3)- KDR
Hemochromatosis, 235200 (3)- HFE
Hemoglobin H disease, deletional and nondeletional, 613978 (3)- HBA2
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)- PRF1
Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)- UNC13D
Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)- STX11
Hemophilia A, 306700 (3)- F8
Hemophilia B, 306900 (3)- F9
Hemorrhage, intracerebral, susceptibility to, 614519 (3)- COL4A1
Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)- SERPINA1
Hepatic adenoma, somatic, 142330 (3)- HNF1A
Hepatic lipase deficiency, 614025 (3)- LIPC
Hepatitis B virus infection, susceptibility to, 610424 (3)- IFNGR1
Hepatoblastoma, somatic, 114550 (3)- APC
Hepatocellular carcinoma, 114550 (3)- TP53
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)- MET
Hepatocellular carcinoma, somatic, 114550 (3)- CTNNB1
Hepatocellular carcinoma, somatic, 114550 (3)- PIK3CA
Hereditary motor and sensory neuropathy VIA, 601152 (3)- MFN2
Hereditary persistence of fetal hemoglobin, 141749 (3)- HBB
Hex A pseudodeficiency, 272800 (3)- HEXA
High density lipoprotein cholesterol level QTL 10, 143470 (3)- CETP
High density lipoprotein cholesterol level QTL 12, 612797 (3)- LIPC
Hirschsprung disease, protection against, 142623 (3)- RET
Hirschsprung disease, susceptibility to, 1, 142623 (3)- RET
HIV-1 viremia, susceptibility to, 609423 (3)- HLA-C
Holocarboxylase synthetase deficiency, 253270 (3)- HLCS
Holoprosencephaly 7, 610828 (3)- PTCH1
Holoprosencephaly 9, 610829 (3)- GLI2
Holt-Oram syndrome, 142900 (3)- TBX5
Homocystinuria due to MTHFR deficiency, 236250 (3)- MTHFR
HPRT-related gout, 300323 (3)- HPRT1
HSAN2D, autosomal recessive, 243000 (3)- SCN9A
HSD10 mitochondrial disease, 300438 (3)- HSD17B10
Huntington disease, 143100 (3)- HTT
Hutchinson-Gilford progeria, 176670 (3)- LMNA
Hydatidiform mole, recurrent, 2, 614293 (3)- KHDC3L
Hydrocephalus due to aqueductal stenosis, 307000 (3)- L1CAM
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)- L1CAM
Hydrocephalus with Hirschsprung disease, 307000 (3)- L1CAM
Hyperalphalipoproteinemia, 143470 (3)- CETP
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)- CYP21A2
Hyperbilirubinemia, familial transient neonatal, 237900 (3)- UGT1A1
Hypercalcemia, infantile, 1, 143880 (3)- CYP24A1
Hypercalciuric hypercalcemia (3)- CASR
Hypercholanemia, familial, 607748 (3)- TJP2
Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)- APOB
Hypercholesterolemia, familial, 143890 (3)- LDLR
Hypercholesterolemia, familial, 3, 603776 (3)- PCSK9
Hypercholesterolemia, familial, modifier of, 143890 (3)- GHR
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)- PDGFRA
Hyper-IgD syndrome, 260920 (3)- MVK
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
Hyperinsulinism-hyperammonemia syndrome, 606762 (3)- GLUD1
Hyperlipoproteinemia, type Ib, 207750 (3)- APOC2
Hyperlipoproteinemia, type III, 617347 (3)- APOE
Hyperostosis, endosteal, 144750 (3)- LRP5
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, B, 233910 (3)- GCH1
Hyperphenylalaninemia, non-PKU mild, 261600 (3)- PAH
Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)- PIGV
Hyperproinsulinemia, 616214 (3)- INS
Hypersensitivity syndrome, carbamazepine-induced, susceptibility to, 608579 (3)- HLA-A
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)- GNB3
Hyperthyroidism, familial gestational, 603373 (3)- TSHR
Hyperthyroidism, nonautoimmune, 609152 (3)- TSHR
Hypertrichotic osteochondrodysplasia, 239850 (3)- ABCC9
Hypertriglyceridemia, transient infantile, 614480 (3)- GPD1
Hypertrypsinemia, neonatal (3)- CFTR
Hypoalphalipoproteinemia, 604091 (3)- APOA1
Hypobetalipoproteinemia, 615558 (3)- APOB
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
Hypochondroplasia, 146000 (3)- FGFR3
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 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
Hypomagnesemia 1, intestinal, 602014 (3)- TRPM6
Hypomagnesemia 6, renal, 613882 (3)- CNNM2
Hypomagnesemia, seizures, and mental retardation, 616418 (3)- CNNM2
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
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
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, congenital, with juvenile macular dystrophy, 601553 (3)- CDH3
Hystrix-like ichthyosis with deafness, 602540 (3)- GJB2
I
Ichthyosis prematurity syndrome, 608649 (3)- SLC27A4
Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)- ELOVL4
Ichthyosis, X-linked, 308100 (3)- STS
IMAGE syndrome, 614732 (3)- CDKN1C
Immunodeficiency 14, 615513 (3)- PIK3CD
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 34, mycobacteriosis, X-linked, 300645 (3)- CYBB
Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)- IL2RA
Immunodeficiency, common variable, 13, 616873 (3)- IKZF1
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)- FOXP3
imperfecta, type III, 259420 (3)- COL1A2
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
Insensitivity to pain, congenital, 243000 (3)- SCN9A
Insensitivity to pain, congenital, with anhidrosis, 256800 (3)- NTRK1
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 with gastrointestinal difficulties and high pain threshold, 617450 (3)- PPM1D
Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)- IRAK4
IRAK4 deficiency, 607676 (3)- IRAK4
Ischiocoxopodopatellar syndrome, 147891 (3)- TBX4
IVIC syndrome, 147750 (3)- SALL4
J
Jackson-Weiss syndrome, 123150 (3)- FGFR1
Jackson-Weiss syndrome, 123150 (3)- FGFR2
Jalili syndrome, 217080 (3)- CNNM4
Jawad syndrome, 251255 (3)- RBBP8
Jervell and Lange-Nielsen syndrome 2, 612347 (3)- KCNE1
Jervell and Lange-Nielsen syndrome, 220400 (3)- KCNQ1
Joubert syndrome 1, 213300 (3)- INPP5E
Joubert syndrome 10, 300804 (3)- OFD1
Joubert syndrome 14, 614424 (3)- TMEM237
Joubert syndrome 19, 614844 (3)- ZNF423
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 7, 611560 (3)- RPGRIP1L
Joubert syndrome 9, 612285 (3)- CC2D2A
Juvenile polyposis syndrome, infantile form, 174900 (3)- BMPR1A
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)- SMAD4
K
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 palmoplantaris striata II, 612908 (3)- DSP
Keratosis, seborrheic, somatic, 182000 (3)- PIK3CA
King-Denborough syndrome, 145600 (3)- RYR1
Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)- GDF6
Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)- GDF3
Kniest dysplasia, 156550 (3)- COL2A1
Kosaki overgrowth syndrome, 616592 (3)- PDGFRB
Kowarski syndrome, 262650 (3)- GH1
L
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
Lateral meningocele syndrome, 130720 (3)- NOTCH3
LDL cholesterol level QTL2, 143890 (3)- LDLR
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 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 9, 611878 (3)- TPM1
Legg-Calve-Perthes disease, 150600 (3)- COL2A1
Legius syndrome, 611431 (3)- SPRED1
Leigh syndrome, 256000 (3)- SDHA
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 contracture syndrome 5, 615368 (3)- DNM2
Leukemia, acute lymphoblastic, 613065 (3)- NBN
Leukemia, acute lymphoblastic, somatic, 613065 (3)- FLT3
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 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/lymphoma, B-cell, 2 (3)- BCL2
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, diffuse hereditary, with spheroids, 221820 (3)- CSF1R
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
Lhermitte-Duclos syndrome, 158350 (3)- PTEN
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, 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
Lipoid adrenal hyperplasia, 201710 (3)- STAR
Lipoma, somatic (3)- MEN1
Lipoprotein glomerulopathy, 611771 (3)- APOE
Lissencephaly 1, 607432 (3)- PAFAH1B1
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
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 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 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
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
Luteinizing hormone resistance, female, 238320 (3)- LHCGR
Lymphangioleiomyomatosis, 606690 (3)- TSC1
Lymphangioleiomyomatosis, somatic, 606690 (3)- TSC2
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
Lymphoproliferative syndrome, X-linked, 1, 308240 (3)- SH2D1A
Lymphoproliferative syndrome, X-linked, 2, 300635 (3)- XIAP
Lysyl hydroxylase 3 deficiency, 612394 (3)- PLOD3
M
Machado-Joseph disease, 109150 (3)- ATXN3
Macrocephaly/autism syndrome, 605309 (3)- PTEN
Macroglobulinemia, Waldenstrom, somatic, 153600 (3)- MYD88
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)- MYH9
Macular corneal dystrophy, 217800 (3)- CHST6
Macular degeneration, age-related, 1, 603075 (3)- HMCN1
Macular degeneration, age-related, 2, 153800 (3)- ABCA4
Macular degeneration, juvenile, 248200 (3)- CNGB3
Macular degeneration, X-linked atrophic, 300834 (3)- RPGR
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
Malaria, resistance to, 611162 (3)- HBB
Malignant hyperthermia susceptibility 1, 145600 (3)- RYR1
Malignant hyperthermia susceptibility 5, 601887 (3)- CACNA1S
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
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
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
McCune-Albright syndrome, somatic, mosaic 174800 (3)- GNAS
McKusick-Kaufman syndrome, 236700 (3)- MKKS
Meacham syndrome, 608978 (3)- WT1
Meckel syndrome 1, 249000 (3)- MKS1
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 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
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)- PIK3CA
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, 8, 601800 (3)- TYR
Melanoma, cutaneous malignant, susceptibility to, 8, 614456 (3)- MITF
Melanoma, malignant, somatic (3)- BRAF
Melanoma, malignant, somatic (3)- STK11
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
Menkes disease, 309400 (3)- ATP7A
Mental retardation, autosomal dominant 1, 156200 (3)- MBD5
Mental retardation, autosomal dominant 19, 615075 (3)- CTNNB1
Mental retardation, autosomal dominant 29, 616078 (3)- SETBP1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)- INPP5E
Mental retardation, X-linked 1/78, 309530 (3)- IQSEC2
Mental retardation, X-linked 19, 300844 (3)- RPS6KA3
Mental retardation, X-linked syndromic, Lubs type, 300260 (3)- MECP2
Mental retardation, X-linked, syndromic 13, 300055 (3)- MECP2
Mental retardation, X-linked, syndromic 33, 300966 (3)- TAF1
Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)- SOX3
Mesothelioma, somatic, 156240 (3)- WT1
Metachondromatosis, 156250 (3)- PTPN11
Metachromatic leukodystrophy, 250100 (3)- ARSA
Methmoglobinemia, beta type, 617971 (3)- HBB
Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)- MMACHC
Methylmalonic aciduria, mut(0) type, 251000 (3)- MUT
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
Mevalonic aciduria, 610377 (3)- MVK
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, congenital cataract, and psoriasiform dermatitis, 616834 (3)- MSMO1
Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)- MED17
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)- ADAMTS18
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)- BEST1
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 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, 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
Minicore myopathy with external ophthalmoplegia, 255320 (3)- RYR1
MIRAGE syndrome, 617053 (3)- SAMD9
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 II deficiency, 252011 (3)- SDHD
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 4A (Alpers type), 203700 (3)- POLG
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)- POLG
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)- TWNK
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)- RRM2B
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)- RRM2B
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
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
Mosaic variegated aneuploidy syndrome 1, 257300 (3)- BUB1B
Mosaic variegated aneuploidy syndrome 2, 614114 (3)- CEP57
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
Mucopolysaccharidosis Ih, 607014 (3)- IDUA
Mucopolysaccharidosis Ih/s, 607015 (3)- IDUA
Mucopolysaccharidosis II, 309900 (3)- IDS
Mucopolysaccharidosis Is, 607016 (3)- IDUA
Muenke syndrome, 602849 (3)- FGFR3
Muir-Torre syndrome, 158320 (3)- MLH1
Muir-Torre syndrome, 158320 (3)- MSH2
Mullerian aplasia and hyperandrogenism, 158330 (3)- WNT4
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 myeloma, resistance to, 254500 (3)- LIG4
Multiple pterygium syndrome, lethal type, 253290 (3)- CHRNA1
Multiple pterygium syndrome, lethal type, 253290 (3)- CHRND
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 synostoses syndrome 2, 610017 (3)- GDF5
Multiple synostoses syndrome 3, 612961 (3)- FGF9
Multiple synostoses syndrome 4, 617898 (3)- GDF6
Multisystemic smooth muscle dysfunction syndrome, 613834 (3)- ACTA2
Muscular dystrophy, congenital, 613205 (3)- LMNA
Muscular dystrophy, limb-girdle, type 1B, 159001 (3)- LMNA
Muscular dystrophy, limb-girdle, type 2A, 253600 (3)- CAPN3
Muscular dystrophy, limb-girdle, type 2B, 253601 (3)- DYSF
Muscular dystrophy, limb-girdle, type 2F, 601287 (3)- SGCD
Muscular dystrophy, limb-girdle, type 2H, 254110 (3)- TRIM32
Muscular dystrophy, limb-girdle, type IC, 607801 (3)- CAV3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)- POMT1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)- POMT1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)- POMT1
Myasthenic syndrome, congenital, 10, 254300 (3)- DOK7
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)- RAPSN
Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3)- CHRNA1
Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3)- CHRNA1
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, 6, presynaptic, 254210 (3)- CHAT
Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)- MPL
Myelofibrosis, somatic, 254450 (3)- CALR
Myelofibrosis, somatic, 254450 (3)- JAK2
Myelofibrosis, somatic, 254450 (3)- SH2B3
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, susceptibility to (3)- ACE
Myocardial infarction, susceptibility to, 608446 (3)- ESR1
Myofibromatosis, infantile, 1, 228550 (3)- PDGFRB
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, myofibrillar, 1, 601419 (3)- DES
Myopathy, myofibrillar, 2, 608810 (3)- CRYAB
Myopathy, myofibrillar, 4, 609452 (3)- LDB3
Myopathy, myofibrillar, 6, 612954 (3)- BAG3
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
Myopia 21, autosomal dominant, 614167 (3)- ZNF644
Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)- P3H2
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
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)- KRT14
Nance-Horan syndrome, 302350 (3)- NHS
Nanophthalmos 2, 609549 (3)- MFRP
Nasopharyngeal carcinoma 1 (2)- NPC1
Nasopharyngeal carcinoma, 607107 (3)- TP53
Naxos disease, 601214 (3)- JUP
Nemaline myopathy 5, Amish type, 605355 (3)- TNNT1
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)- AVPR2
Nephronophthisis 1, juvenile, 256100 (3)- NPHP1
Nephronophthisis 13, 614377 (3)- WDR19
Nephronophthisis 14, 614844 (3)- ZNF423
Nephronophthisis 15, 614845 (3)- CEP164
Nephronophthisis 2, infantile, 602088 (3)- INVS
Nephronophthisis 3, 604387 (3)- NPHP3
Nephronophthisis 4, 606966 (3)- NPHP4
Nephrotic syndrome, type 4, 256370 (3)- WT1
Neu-Laxova syndrome 1, 256520 (3)- PHGDH
Neural tube defects, susceptibility to, 601634 (3)- MTHFR
Neuroblastoma with Hirschsprung disease, 613013 (3)- PHOX2B
Neuroblastoma, susceptibility to, 2, 613013 (3)- PHOX2B
Neuroblastoma, susceptibility to, 3, 613014 (3)- ALK
Neurocutaneous melanosis, somatic, 249400 (3)- NRAS
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
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
Neuropathy, congenital hypomyelinating, 605253 (3)- MPZ
Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)- SPTLC1
Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)- SPTLC2
Neuropathy, hereditary sensory, type ID, 613708 (3)- ATL1
Neuropathy, recurrent, with pressure palsies, 162500 (3)- PMP22
Neutropenia, cyclic, 162800 (3)- ELANE
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)- ELANE
Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)- CSF3R
Neutropenia, severe congenital, X-linked, 300299 (3)- WAS
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
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
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)- 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-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)- CBL
Norrie disease, 310600 (3)- NDP
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 with impaired prohormone processing, 600955 (3)- PCSK1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)- POMC
Obesity, autosomal dominant, 601665 (3)- MC4R
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, severe, 601665 (3)- PPARG
Obesity, severe, 601665 (3)- SIM1
Obesity, susceptibility to, BMIQ11, 300306 (3)- SLC6A14
Obesity, susceptibility to, BMIQ12, 612362 (3)- PCSK1
Obesity, susceptibility to, BMIQ14, 612460 (3)- FTO
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
Oculopharyngeal muscular dystrophy, 164300 (3)- PABPN1
Odontohypophosphatasia, 146300 (3)- ALPL
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
Omenn syndrome, 603554 (3)- DCLRE1C
Omenn syndrome, 603554 (3)- RAG1
Omenn syndrome, 603554 (3)- RAG2
Opitz-Kaveggia syndrome, 305450 (3)- MED12
Optic atrophy 1, 165500 (3)- OPA1
Optic atrophy 3 with cataract, 165300 (3)- OPA3
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
Orolaryngeal cancer, multiple, (3)- CDKN2A
Orthostatic intolerance, 604715 (3)- SLC6A2
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 IV, 166220 (3)- COL1A1
Osteogenesis imperfecta, type IV, 166220 (3)- COL1A2
Osteogenesis imperfecta, type XI, 610968 (3)- FKBP10
Osteoglophonic dysplasia, 166250 (3)- FGFR1
Osteopetrosis, autosomal dominant 1, 607634 (3)- LRP5
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
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)- COL11A2
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)- COL11A2
Ovarian cancer, somatic, (3)- ERBB2
Ovarian cancer, somatic, 167000 (3)- AKT1
Ovarian cancer, somatic, 167000 (3)- CTNNB1
Ovarian cancer, somatic, 167000 (3)- PIK3CA
Ovarian carcinoma, somatic, 167000 (3)- CDH1
Ovarian dysgenesis 1, 233300 (3)- FSHR
Ovarian dysgenesis 2, 300510 (3)- BMP15
Ovarian dysgenesis 3, 614324 (3)- PSMC3IP
Ovarian hyperstimulation syndrome, 608115 (3)- FSHR
Ovarian response to FSH stimulation, 276400 (3)- FSHR
P
Paget disease of bone 3, 167250 (3)- SQSTM1
Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)- RSPO1
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)- RSPO1
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, 260350 (3)- STK11
Pancreatic cancer, 260350 (3)- TP53
Pancreatic cancer, somatic, 260350 (3)- SMAD4
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
Papillorenal syndrome, 120330 (3)- PAX2
Paragangliolas 4, 115310 (3)- SDHB
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 5, 614165 (3)- SDHA
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 14, autosomal recessive, 612953 (3)- PLA2G6
Parkinson disease 15, autosomal recessive, 260300 (3)- FBXO7
Parkinson disease 4, 605543 (3)- SNCA
Parkinson disease 6, early onset, 605909 (3)- PINK1
Parkinson disease 8, 607060 (3)- LRRK2
Parkinson disease, late-onset, susceptibility to, 168600 (3)- ATXN2
Parkinson disease, late-onset, susceptibility to, 168600 (3)- GBA
Parkinson disease, susceptibility to, 168600 (3)- MAPT
Parkinson disease, susceptibility to, 168600 (3)- TBP
Paroxysmal extreme pain disorder, 167400, (3)- SCN9A
Pendred syndrome, 274600 (3)- SLC26A4
Periodic fever, familial, 142680 (3)- TNFRSF1A
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 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 9B, 614879 (3)- PEX7
Perrault syndrome 3, 614129 (3)- CLPP
Perrault syndrome 4, 615300 (3)- LARS2
Perrault syndrome 5, 616138 (3)- TWNK
Persistent Mullerian duct syndrome, type I, 261550 (3)- AMH
Persistent Mullerian duct syndrome, type II, 261550 (3)- AMHR2
Persistent truncus arteriosus, 217095 (3)- GATA6
Peters-plus syndrome, 261540 (3)- B3GLCT
Peutz-Jeghers syndrome, 175200 (3)- STK11
Pfeiffer syndrome, 101600 (3)- FGFR2
Pfeiffer syndrome, 101600 (3)- FGFR1
Phenylketonuria, 261600 (3)- PAH
Pheochromocytoma, 171300 (3)- RET
Pheochromocytoma, 171300 (3)- SDHB
Pheochromocytoma, 171300 (3)- SDHD
Pheochromocytoma, 171300 (3)- VHL
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
Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)- PRPS1
Pick disease, 172700 (3)- MAPT
Pick disease, 172700 (3)- PSEN1
Piebaldism, 172800 (3)- KIT
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
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, 102000 (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
Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)- RUNX1
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 liver disease 4 with or without kidney cysts, 617875 (3)- LRP5
Polycythemia vera, somatic, 263300 (3)- JAK2
Polyglucosan body disease, adult form, 263570 (3)- GBE1
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
Porencephaly 1, 175780 (3)- COL4A1
Porokeratosis 3, multiple types, 175900 (3)- MVK
Porphyria cutanea tarda, susceptibility to, 176100 (3)- HFE
Porphyria variegata, susceptibility to, 176200 (3)- HFE
Porphyria, acute intermittent, 176000 (3)- HMBS
Porphyria, acute intermittent, nonerythroid variant, 176000 (3)- HMBS
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 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
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
Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)- CACNA1D
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)- SLC25A4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3)- TWNK
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, autosomal dominant 1, 157640 (3)- POLG
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)- POLG
Prostate cancer 1, 601518 (3)- RNASEL
Prostate cancer, 176807 (3)- BRCA2
Prostate cancer, familial, susceptibility to, 176807 (3)- CHEK2
Prostate cancer, hereditary, 2, susceptibility to, 614731 (3)- ELAC2
Prostate cancer, somatic, 176807 (3)- PTEN
Prostate cancer, susceptibility to, 176807 (3)- AR
Prostate cancer, susceptibility to, 176807 (3)- CDH1
Proteus syndrome, somatic, 176920 (3)- AKT1
Pseudohermaphroditism, male, with gynecomastia, 264300 (3)- HSD17B3
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)- NR3C2
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
Pseudovaginal perineoscrotal hypospadias, 264600 (3)- SRD5A2
Pseudoxanthoma elasticum, 264800 (3)- ABCC6
Pseudoxanthoma elasticum, forme fruste, 177850 (3)- ABCC6
Psoriasis susceptibility 1, 177900 (3)- HLA-C
PTEN hamartoma tumor syndrome (3)- PTEN
Pulmonary disease, chronic obstructive, susceptibility to, 606963 (1)- SERPINA1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 (3)- TERT
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)- MYD88
Q
No results found.
R
Rabson-Mendenhall syndrome, 262190 (3)- INSR
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)- MECOM
RAPADILINO syndrome, 266280 (3)- RECQL4
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)- KRAS
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 dysgenesis, 267430 (3)- ACE
Renal tubular dysgenesis, 267430 (3)- AGT
Renal tubular dysgenesis, 267430 (3)- AGTR1
Renal-hepatic-pancreatic dysplasia 1, 208540 (3)- NPHP3
Restrictive dermopathy, lethal, 275210 (3)- LMNA
Restrictive dermopathy, lethal, 275210 (3)- ZMPSTE24
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, 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 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 74, 616562 (3)- BBS2
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, autosomal recessive, 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)- RHO
Retinitis punctata albescens, 136880 (3)- RLBP1
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
Rhabdoid tumor predisposition syndrome 1, 609322 (3)- SMARCB1
Rhabdoid tumors, somatic, 609322 (3)- SMARCB1
Rhabdomyosarcoma 2, alveolar, 268220 (3)- PAX3
Rhabdomyosarcoma, embryonal, 2, 180295 (3)- DICER1
Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)- PEX7
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)- PEX5
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
Ring dermoid of cornea, 180550 (3)- PITX2
Rippling muscle disease, 606072 (3)- CAV3
Robinow syndrome, autosomal recessive, 268310 (3)- ROR2
Robinow-Sorauf syndrome, 180750 (3)- TWIST1
Rothmund-Thomson syndrome, 268400 (3)- RECQL4
Roussy-Levy syndrome, 180800 (3)- MPZ
Roussy-Levy syndrome, 180800 (3)- PMP22
S
SADDAN, 616482 (3)- FGFR3
Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3)- TWIST1
Saethre-Chotzen syndrome, 101400 (3)- FGFR2
Sarcoidosis, susceptibility to, 1, 181000 (3)- HLA-DRB1
Sarcoma, synovial (1)- SS18
SARS, progression of (3)- ACE
Scaphocephaly and Axenfeld-Rieger anomaly (3)- FGFR2
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)- FGFR2
Scapuloperoneal syndrome, myopathic type, 181430 (3)- MYH7
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)- DES
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
Schinzel-Giedion midface retraction syndrome, 269150 (3)- SETBP1
Schizencephaly, 269160 (3)- COL4A1
Schizophrenia, susceptibility to, 181500 (2)- AKT1
Schizophrenia, susceptibility to, 181500 (3)- MTHFR
Schwannomatosis, somatic, 162091 (3)- NF2
Schwannomatosis-1, susceptibility to, 162091 (3)- SMARCB1
SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)- JAK3
Sclerosteosis 2, 614305 (3)- LRP4
Sea-blue histiocyte disease, 269600 (3)- APOE
Seckel syndrome 1, 210600 (3)- ATR
Seckel syndrome 2, 606744 (3)- RBBP8
SED congenita, 183900 (3)- COL2A1
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
Septooptic dysplasia, 182230 (3)- HESX1
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)- ADA
Severe combined immunodeficiency, Athabascan type, 602450 (3)- DCLRE1C
Severe combined immunodeficiency, B cell-negative, 601457 (3)- RAG1
Severe combined immunodeficiency, B cell-negative, 601457 (3)- RAG2
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)- IL7R
Severe combined immunodeficiency, X-linked, 300400 (3)- IL2RG
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, 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-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)- IFT140
Shwachman-Diamond syndrome, 260400 (3)- SBDS
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
Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)- GPC3
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)- OFD1
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)- OCA2
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
Small cell cancer of the lung, somatic, 182280 (3)- RB1
Small fiber neuropathy, 133020 (3)- SCN9A
SMED Strudwick type, 184250 (3)- COL2A1
Smith-Lemli-Opitz syndrome, 270400 (3)- DHCR7
Smith-Magenis syndrome, 182290 (3)- RAI1
Snowflake vitreoretinal degeneration, 193230 (3)- KCNJ13
Somatostatin analog, resistance to (3)- SSTR5
Sorsby fundus dystrophy, 136900 (3)- TIMP3
Sotos syndrome 1, 117550 (3)- NSD1
Spastic paraplegia 3A, autosomal dominant, 182600 (3)- ATL1
Spastic paraplegia 9A, autosomal dominant, 601162 (3)- ALDH18A1
Spastic paraplegia 9B, autosomal recessive, 616586 (3)- ALDH18A1
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
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)- AR
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)- ATP7A
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 12, 604326 (3)- PPP2R2B
Spinocerebellar ataxia 17, 607136 (3)- TBP
Spinocerebellar ataxia 2, 183090 (3)- ATXN2
Spinocerebellar ataxia 34, 133190 (3)- ELOVL4
Spinocerebellar ataxia 6, 183086 (3)- CACNA1A
Spinocerebellar ataxia 7, 164500 (3)- ATXN7
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)- SETX
Spitz nevus or nevus spilus, somatic, 137550 (3)- HRAS
Spondyloarthropathy, susceptibility to, 1, 106300 (3)- HLA-B
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)- COL2A1
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)- DDR2
Spondyloperipheral dysplasia, 271700 (3)- COL2A1
Squamous cell carcinoma, burn scar-related, somatic (3)- FAS
Stargardt disease 1, 248200 (3)- ABCA4
Stargardt disease 3, 600110 (3)- ELOVL4
Stargardt disease 4, 603786 (3)- PROM1
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
Striatal degeneration, autosomal dominant, 609161 (3)- PDE8B
Stroke, hemorrhagic, 614519 (3)- ACE
Stroke, ischemic, susceptibility to, 601367 (3)- F2
Stroke, ischemic, susceptibility to, 601367 (3)- F5
Sturge-Weber syndrome, somatic, mosaic, 185300 (3)- GNAQ
Subcortical laminal heterotopia, X-linked, 300067 (3)- DCX
Subcortical laminar heterotopia, 607432 (3)- PAFAH1B1
Sudden infant death syndrome, susceptibility to, 272120 (3)- SCN5A
Supranuclear palsy, progressive atypical, 260540 (3)- MAPT
Supranuclear palsy, progressive, 601104 (3)- MAPT
Supravalvar aortic stenosis, 185500 (3)- ELN
Sveinsson chorioretinal atrophy, 108985 (3)- TEAD1
Sweat chloride elevation without CF (3)- CFTR
Sweeney-Cox syndrome, 617746 (3)- TWIST1
Symphalangism, proximal, 1B, 615298 (3)- GDF5
Synovitis, chronic, susceptibility to (3)- HLA-B
Systemic lupus erythematosus, susceptibility to, 152700 (3)- CTLA4
Systemic lupus erythematosus, susceptibility to, 152700 (3)- TREX1
T
Tangier disease, 205400 (3)- ABCA1
Tay-Sachs disease, 272800 (3)- HEXA
T-cell prolymphocytic leukemia, somatic (3)- ATM
Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)- ENG
Temtamy syndrome, 218340 (3)- C12orf57
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
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
Thanatophoric dysplasia, type I, 187600 (3)- FGFR3
Thanatophoric dysplasia, type II, 187601 (3)- FGFR3
Thiopurines, poor metabolism of, 1, 610460 (3)- TPMT
Thrombocythemia 2, 601977 (3)- MPL
Thrombocythemia 3, 614521 (3)- JAK2
Thrombocythemia, somatic, 187950 (3)- CALR
Thrombocythemia, somatic, 187950 (3)- SH2B3
Thrombocytopenia 5, 616216 (3)- ETV6
Thrombocytopenia, congenital amegakaryocytic, 604498 (3)- MPL
Thrombocytopenia, X-linked, 313900 (3)- WAS
Thrombocytopenia, X-linked, intermittent, 313900 (3)- WAS
Thromboembolism, susceptibility to, 188050 (3)- MTHFR
Thrombophilia due to activated protein C resistance, 188055 (3)- F5
Thrombophilia due to thrombin defect, 188050 (3)- F2
Thrombophilia, susceptibility to, due to factor V Leiden, 188055 (3)- F5
Thrombophilia, X-linked, due to factor IX defect, 300807 (3)- F9
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)- NRAS
Thyroid carcinoma, follicular, somatic, 188470 (3)- HRAS
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
Tietz albinism-deafness syndrome, 103500 (3)- MITF
Timothy syndrome, 601005 (3)- CACNA1C
Toenail dystrophy, isolated, 607523 (3)- COL7A1
Toxic epidermal necrolysis, susceptibility to, 608579 (3)- HLA-B
Transferrin serum level QTL2, 614193 (3)- HFE
Transient bullous of the newborn, 131705 (3)- COL7A1
Treacher Collins syndrome 1, 154500 (3)- TCOF1
Trichoepithelioma, multiple familial, 1, 601606 (3)- CYLD
Trichothiodystrophy 1, photosensitive, 601675 (3)- ERCC2
Trichothiodystrophy 2, photosensitive, 616390 (3)- ERCC3
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
Tuberculosis infection, protection against, 607948 (3)- IFNGR1
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
Tylosis with esophageal cancer, 148500 (3)- RHBDF2
U
Ulnar-mammary syndrome, 181450 (3)- TBX3
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
V
van Buchem disease, type 2, 607636 (3)- LRP5
Vascular disease, susceptibility to (3)- MTHFR
Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)- TREX1
VATER association with macrocephaly and ventriculomegaly, 276950 (3)- PTEN
Ventricular fibrillation, familial, 1, 603829 (3)- SCN5A
Ventricular septal defect 1, 614429 (3)- GATA4
Ventricular septal defect 3, 614432 (3)- NKX2-5
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)- RYR2
Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)- CASQ2
Vesicoureteral reflux 2, 610878 (3)- ROBO2
Vesicoureteral reflux 8, 615963 (3)- TNXB
Vitamin D-dependent rickets, type I, 264700 (3)- CYP27B1
Vitreoretinochoroidopathy, 193220 (3)- BEST1
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)- COL2A1
Vitreoretinopathy, neovascular inflammatory, 193235 (3)- CAPN5
VLCAD deficiency, 201475 (3)- ACADVL
Vohwinkel syndrome, 124500 (3)- GJB2
von Hippel-Lindau syndrome, 193300 (3)- VHL
W
Waardenburg syndrome, type 1, 193500 (3)- PAX3
Waardenburg syndrome, type 2A, 193510 (3)- MITF
Waardenburg syndrome, type 3, 148820 (3)- PAX3
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
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
WHIM syndrome, 193670 (3)- CXCR4
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-like syndrome, autosomal dominant, 614296 (3)- WFS1
Wolman disease, 278000 (3)- LIPA
X
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
Y
No results found.
Z
No results found.