All diseases

12 entries on 1 page. Showing entries 1 - 12.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06135 CUGS Cardiac-urogenital syndrome 618280 AD 0 0 C11orf9 - -
01269 DMBCYP2A6 metabolism, drug, resistance, coumarin 122700 AD 7 7 CYP2A6, CYP2C9, F9, VKORC1 - autosomal dominant
04363 EIEE8 encephalopathy, epileptic, early infantile, type 8 (EIEE-8) 300607 XLR 0 0 ARHGEF9 - -
02237 HEMB hemophilia B (HEMB) 306900 XLR 3524 3524 F9 - -
05086 HL hearing loss (HL) - - 591 529 C10orf90, FAM179A, GRAP, MPZL2, PDZD7, USP48 - -
00139 ID intellectual disability (ID) - - 2334 2032 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
06252 IMD65 Immunodeficiency 65, susceptibility to viral infections 618648 AR 0 0 IRF9 - -
05477 MMERV encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) 618113 AD 0 0 C11orf9 - autosomal dominant
06669 POF14 ?Premature ovarian failure 14 618014 AR 0 0 GDF9 - -
00708 SYNS3 synostoses syndrome, multiple, type 3 (SYNS-3) 612961 AD 0 0 FGF9 - -
05478 TAPVR1 pulmonary venous return, total anomalous, type 1 (TAPVR-1, Scimitar syndrome) 106700 - 0 0 C11orf9 - -
02186 THPH8 thrombophilia, X-linked, due to factor IX defect (THPH8) 300807 - 3 3 F9 - -
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