Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
Maturity-Onset Diabetes of the Young, Type 1
disease 1.000 None 1.000 3 0 1977 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
Diabetes Mellitus, Non-Insulin-Dependent
disease 1.000 None 0.942 1 0 1992 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
disease 0.700 None 1.000 4 0 2010 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
Maturity onset diabetes mellitus in young
disease 0.700 strong 0.962 0 0 1995 2020
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.600 definitive 0.964 0 0 1996 2019