HNF1A, HNF1 homeobox A, 6927

N. diseases: 205; N. variants: 41
Source: BEFREE ×
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: 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 3 0.010 None 1.000 1 2008 2008
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 1 0.020 None 1.000 2 2007 2012
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 7 4 0.010 None 1.000 1 1 2014 2014
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: 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: 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 10 2 1.000 strong 0.985 40 2 1996 2020
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 10 5 0.010 None 1.000 1 1 2017 2017
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2004 2004
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: C0020599
Disease: Hypocalciuria
Hypocalciuria 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2009 2009
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: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.120 None 1.000 2 2007 2016
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2013 2013
CUI: C0862878
Disease: Dedifferentiated chondrosarcoma
Dedifferentiated chondrosarcoma 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C0333980
Disease: Focal Nodular Hyperplasia
Focal Nodular Hyperplasia 		disease Digestive System Diseases Disease or Syndrome 16 0.030 None 1.000 3 2007 2015
CUI: C0005122
Disease: Beriberi
Beriberi 		disease Nutritional and Metabolic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0039841
Disease: Thiamine Deficiency
Thiamine Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 7 0.010 None 1.000 1 2019 2019
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 17 12 0.010 None 1.000 1 2008 2008
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 20 7 0.010 None 1.000 1 2019 2019
CUI: C3826457
Disease: Diabetes in children
Diabetes in children 		disease Disease or Syndrome 22 2 0.020 None 1.000 2 1 2007 2011