HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.190 None 1.000 12 4 2005 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.170 None 1.000 8 2 2003 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.160 None 1.000 9 15 2011 2018
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.150 None 1.000 5 2013 2020
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.130 None 0.667 3 1994 2012
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 121 11 0.130 None 0.667 3 2006 2014
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.130 None 0.667 3 2003 2011
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.120 None 1.000 3 3 2013 2020
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.120 None 1.000 2 2002 2016
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.120 None 1.000 2 2013 2019
CUI: C0346163
Disease: Endometrioid carcinoma ovary
Endometrioid carcinoma ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 52 35 0.110 None 1.000 2 1 2016 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.110 None 1.000 2 1 2016 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.110 None 1.000 2 1 2015 2016
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
disease Anatomical Abnormality 12 4 0.110 None 1.000 2 1 2017 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.110 None 1.000 2 1 2016 2017
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.110 None 1.000 2 2 2011 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.110 None 0.500 2 2 2018 2019
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 0.110 None 1.000 1 2018 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.110 None 1.000 1 2010 2010
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.110 None 1.000 1 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2014 2014
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.110 None 1.000 1 2004 2004
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.110 None 1.000 1 2003 2003
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.110 None 1.000 1 2017 2017
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 82 26 0.110 None 1.000 1 2012 2012