HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 241; N. variants: 43
Source: BEFREE ×
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: C0271689
Disease: Insulin Receptor, Defect in
Insulin Receptor, Defect in 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
CUI: C0271702
Disease: Iatrogenic hyperinsulinism
Iatrogenic hyperinsulinism 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0340231
Disease: Tracheobronchomalacia
Tracheobronchomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4476912
Disease: Idiopathic non-cirrhotic portal hypertension
Idiopathic non-cirrhotic portal hypertension 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
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 4 3 1.000 None 1.000 12 1 1977 2019
CUI: C0029002
Disease: Onchocerciasis, Ocular
Onchocerciasis, Ocular 		disease Infections; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C3825462
Disease: Diabetes in youth
Diabetes in youth 		disease Disease or Syndrome 4 2 0.010 None 1.000 1 2013 2013
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 5 1 0.310 None 1.000 1 2008 2014
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 7 4 0.050 None 1.000 5 1 2008 2019
CUI: C0221715
Disease: Intestinal carcinoma
Intestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 1992 1992
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2000 2000
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 10 2 0.070 None 1.000 7 1997 2011
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 4 0.030 None 1.000 3 2000 2012
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 2 0.030 None 1.000 3 2 2014 2016
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 10 0.010 None 1.000 1 2019 2019
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 5 0.010 None 1.000 1 2000 2000
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2000 2000
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2019 2019
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 0.120 None 1.000 2 2016 2018
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.140 None 1.000 4 2007 2016
CUI: C0346993
Disease: Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 1 0.010 None 1.000 1 2017 2017
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 17 12 0.020 None 1.000 2 2006 2015
CUI: C0029001
Disease: Onchocerciasis
Onchocerciasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 19 0.010 None 1.000 1 2014 2014
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 4 0.030 None 1.000 3 2 2014 2016
CUI: C3826457
Disease: Diabetes in children
Diabetes in children 		disease Disease or Syndrome 22 2 0.020 None 1.000 2 2011 2017