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: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.100 None 1.000 1 1 2018 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2008 2008
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2003 2003
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: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2011 2011
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.010 None 1.000 1 2011 2011
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2015 2015
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None 1.000 1 2018 2018
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: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.700 strong 0.987 149 9 1995 2020
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.900 strong 0.954 130 22 1995 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 0.958 120 14 1996 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 0.956 114 13 1996 2020
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: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.700 definitive 1.000 31 2 1996 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.700 strong 1.000 29 5 1998 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.500 None 0.964 28 5 1996 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.180 None 1.000 12 5 1998 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.470 None 1.000 10 3 1998 2017
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.090 None 1.000 9 1991 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.370 None 0.857 7 1 2001 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.070 None 0.857 7 1 1999 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.060 None 1.000 6 1 2007 2019