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: C4303475
Disease: Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF1A deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2012 2015
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: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 2 7 0.700 strong 1.000 3 7 1997 1999
CUI: C0403502
Disease: Low renal threshold for glucose
Low renal threshold for glucose 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0158698
Disease: Congenital malformation of the urinary system
Congenital malformation of the urinary system 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 3 0.010 None 1.000 1 2011 2011
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 24 0.010 None 1.000 1 2008 2008
CUI: C4703616
Disease: Decreased level of 1,5 anhydroglucitol in serum
Decreased level of 1,5 anhydroglucitol in serum 		phenotype Finding 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 0.020 None 1.000 2 2007 2012
CUI: C0202035
Disease: Gamma glutamyl transferase measurement
Gamma glutamyl transferase measurement 		phenotype Laboratory Procedure 5 7 0.100 None 1.000 1 1 2011 2011
CUI: C0085547
Disease: Phenylketonuria, Maternal
Phenylketonuria, Maternal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 6 2 0.200 None 1.000 2 1996 1998
CUI: C4330695
Disease: Mitochondrial Diabetes
Mitochondrial Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C4525496
Disease: Hamster Insulinoma
Hamster Insulinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 1992 1992
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 8 139 0.010 None 1.000 1 1 2014 2014
CUI: C3828492
Disease: Pre-Gestational Diabetes
Pre-Gestational Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 1 2016 2016
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		disease Disease or Syndrome 8 2 0.010 None 1.000 1 2008 2008
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 1 2017 2017
CUI: C3658248
Disease: Hypertriglyceridemic Waist
Hypertriglyceridemic Waist 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 0.010 None 1.000 1 2006 2006
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 12 48 1.000 strong 0.985 68 48 1996 2020
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: C0496870
Disease: Benign neoplasm of liver
Benign neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 13 0.020 None 1.000 2 2011 2013
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c 		phenotype Finding 14 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		phenotype Finding 14 0.100 None 0
CUI: C0862878
Disease: Dedifferentiated chondrosarcoma
Dedifferentiated chondrosarcoma 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 15 0.100 None 0