HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 8; N. variants: 35
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 1 21 1.000 None 1.000 8 21 1977 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 221 1232 1.000 None 0.942 5 8 1992 2019
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		disease Disease or Syndrome 1 1 0.700 None 1.000 5 1 2010 2019
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 14 9 0.700 strong 0.962 2 1995 2020
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 16 15 0.600 definitive 0.964 7 1996 2019
CUI: C4274078
Disease: Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.400 None 1.000 2 3 2010 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 63 475 0.370 None 1.000 1 2009 2019
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 42 0.310 None 1.000 1 2008 2014