HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
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: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 12 0.100 None 0
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 1 4 0.600 strong 0 4
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C0032617
Disease: Polyuria
Polyuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 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: 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: C0009421
Disease: Comatose
Comatose 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 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: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 119 11 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: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 0
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 0.300 None 0
CUI: C0013144
Disease: Drowsiness
Drowsiness 		phenotype Mental Disorders Finding 31 3 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.300 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease Disease or Syndrome 23 0.100 None 0