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.
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 181 12 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.100 None 0
CUI: C0023380
Disease: Lethargy
Lethargy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 160 6 0.100 None 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia
phenotype Nutritional and Metabolic Diseases Finding 15 0.100 None 0
CUI: C1856285
Disease: Increased hepatic glycogen content
Increased hepatic glycogen content
phenotype Finding 4 0.100 None 0
Progressive neurologic deterioration
phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C1854704
Disease: Metabolic Ketosis
Metabolic Ketosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 3 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.100 None 0
CUI: C0016382
Disease: Flushing
Flushing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 83 9 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
CUI: C0017979
Disease: Glycosuria
Glycosuria
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight
phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C2830004
Disease: Somnolence
Somnolence
phenotype Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 87 8 0.100 None 0
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 82 26 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0