HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Source: ALL
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.
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
disease Disease or Syndrome 1 1 0.700 None 1.000 9 1 2010 2019
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: C0015938
Disease: Fetal Macrosomia
Fetal Macrosomia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 2 0.200 None 1.000 1 2009 2009
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
Idiopathic non-cirrhotic portal hypertension
disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1854704
Disease: Metabolic Ketosis
Metabolic Ketosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 3 0.100 None 0
Abnormality of exocrine pancreas physiology
phenotype Pathologic Function 3 0.100 None 0
Maturity-Onset Diabetes of the Young, Type 1
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 4 24 1.000 None 1.000 33 22 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: C1856285
Disease: Increased hepatic glycogen content
Increased hepatic glycogen content
phenotype Finding 4 0.100 None 0
Abnormality of endocrine pancreas physiology
phenotype Pathologic Function 4 0.100 None 0
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 42 0.310 None 1.000 2 2008 2014
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased
phenotype Nutritional and Metabolic Diseases Finding 5 6 0.100 None 0 1
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas
phenotype Finding 5 0.100 None 0
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 6 0.010 None 1.000 1 2019 2019
Papillary cystadenoma of the epididymis
disease Neoplastic Process 6 0.100 None 0
CUI: C0221715
Disease: Intestinal carcinoma
Intestinal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 1992 1992
Diabetes mellitus autosomal dominant type II (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 139 0.050 None 1.000 5 1 2008 2019
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 73 0.030 None 1.000 3 2000 2012
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
disease Congenital Abnormality 10 0.100 None 0
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2000 2000
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 48 0.070 None 1.000 7 1997 2011
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 12 1 0.010 None 1.000 1 2019 2019