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39 entries on 1 page. Showing entries 1 - 39.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes
00033 a-THAL ALPHA-THALASSEMIA 604131 0 0 HBA1, HBA2
00034 ACH ACHONDROPLASIA 100800 0 0 FGFR3
00032 b-THAL BETA-THALASSEMIA 613985 0 0 HBB
00028 BREAST CANCER BREAST CANCER, FAMILIAL 114480 0 0 ATM, BRCA2, CHEK2, PALB2, TP53
00002 BROVCA1 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 604370 0 0 BRCA1
00011 BROVCA2 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 612555 0 0 BRCA2
00012 BROVCA3 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 613399 0 0 RAD51C
00013 BROVCA4 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 614291 0 0 RAD51D
00030 CAH1 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 201910 0 0 CYP21A2
00004 CF CYSTIC FIBROSIS 219700 0 0 CFTR
00037 CWS2 COWDEN SYNDROME 2 612359 0 0 SDHB
00031 DFNB1A DEAFNESS, AUTOSOMAL RECESSIVE 1A 220290 0 0 GJB2
00027 FANCN FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 0 0 PALB2
00026 FD FABRY DISEASE 301500 0 0 GLA
00025 FMF FAMILIAL MEDITERRANEAN FEVER 249100 0 0 MEFV
00038 GIST GASTROINTESTINAL STROMAL TUMOR 606764 0 0 SDHB
00035 HCH HYPOCHONDROPLASIA 146000 0 0 FGFR3
00005 HNPCC1 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 120435 0 0 MSH2
00008 HNPCC2 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 609310 0 0 MLH1
00010 HNPCC4 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 614337 0 0 PMS2
00009 HNPCC5 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 614350 0 0 MSH6
00022 ISS SHORT STATURE, IDIOPATHIC, X-LINKED 300582 0 0 SHOX
00021 LFS1 LI-FRAUMENI SYNDROME 1 151623 0 0 TP53
00023 MJD MACHADO-JOSEPH DISEASE 109150 0 0 ATXN3
00014 MODY1 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 125850 0 0 HNF4A
00003 MODY2 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 125851 0 0 GCK
00007 MODY3 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 600496 0 0 HNF1A
00015 MODY5 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 137920 0 0 HNF1B
00016 NS1 NOONAN SYNDROME 1 163950 0 0 PTPN11
00036 PA, ACTH Pituitary adenoma, ACTH-secreting 219090 0 0 AIP
00006 PCTT PANCREATITIS, HEREDITARY 167800 0 0 CFTR, PRSS1, SPINK1
00041 PCZ PHEOCHROMOCYTOMA 171300 0 0 SDHB
00040 PGL4 PARAGANGLIOMAS 4 115310 0 0 SDHB
00039 PGSS PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 606864 0 0 SDHB
00029 PNCA3 PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 613348 0 0 PALB2
00019 RTT RETT SYNDROME 312750 0 0 MECP2
00017 THPH3 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT 176860 0 0 PROC
00018 THPH5 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 612336 0 0 PROS1
00020 WD WILSON DISEASE 277900 0 0 ATP7B