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: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome
disease Disease or Syndrome 1 0.040 None 1.000 4 2012 2019
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2018 2018
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.310 strong 1.000 1 2004 2004
Abnormality of alkaline phosphatase activity
phenotype Finding 1 0.100 None 0
Abnormality of endocrine pancreas physiology
phenotype Pathologic Function 4 0.100 None 0
Abnormality of exocrine pancreas physiology
phenotype Pathologic Function 3 0.100 None 0
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.100 None 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2018 2018
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 1 1 2016 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.100 None 1.000 1 1 2016 2016
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 2017 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
disease Neoplasms Neoplastic Process 117 6 0.020 None 1.000 2 2013 2019
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 2011 2020
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None < 0.001 1 2007 2007
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.100 None 0
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2017 2017
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.020 None 0.500 2 2011 2014
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2016 2016
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas
phenotype Finding 5 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 0.110 None 1.000 1 2018 2018
CUI: C0152014
Disease: Atrophy of pancreas
Atrophy of pancreas
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2010 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.110 None 1.000 1 2010 2010