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
Bilateral Multicystic Dysplastic Kidneys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 1 0.300 None 1.000 2 2010 2013
CUI: C0266445
Disease: Congenital atresia of vas deferens
Congenital atresia of vas deferens
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.100 None 0
Abnormality of alkaline phosphatase activity
phenotype Finding 1 0.100 None 0
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 3 0.300 None 1.000 2 2010 2013
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis
disease Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C1862260
Disease: BPES type I
BPES type I
disease Disease or Syndrome 2 1 0.010 None 1.000 1 2014 2014
CUI: C2609249
Disease: Ureterovesical junction obstruction
Ureterovesical junction obstruction
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 2 0.010 None 1.000 1 2017 2017
CUI: C2673888
Disease: Decreased numbers of nephrons
Decreased numbers of nephrons
phenotype Finding 2 0.100 None 0
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C3281138
Disease: CHROMOSOME 17q12 DELETION SYNDROME
CHROMOSOME 17q12 DELETION SYNDROME
disease Disease or Syndrome 2 0.300 None 0
Unilateral Multicystic Dysplastic Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 3 0.310 None 1.000 2 2010 2013
CUI: C0442872
Disease: Multiple cysts
Multiple cysts
disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 3 0.010 None 1.000 1 2018 2018
Abnormality of exocrine pancreas physiology
phenotype Pathologic Function 3 0.100 None 0
CUI: C4021967
Disease: Pancreatic aplasia
Pancreatic aplasia
phenotype Finding 3 0.100 None 0
CUI: C0266239
Disease: Congenital anomaly of bile ducts
Congenital anomaly of bile ducts
group Digestive System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2017 2017
Abnormality of endocrine pancreas physiology
phenotype Pathologic Function 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 0.800 definitive 1.000 74 42 1997 2019
CUI: C1868139
Disease: Medullary cystic kidney disease 1
Medullary cystic kidney disease 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.020 None 1.000 2 2003 2006
Medullary Cystic Kidney Disease Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2003 2003
CUI: C0037859
Disease: Spermatocele
Spermatocele
disease Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas
phenotype Finding 5 0.100 None 0
Hyperuricemic Nephropathy, Familial Juvenile 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 18 0.040 None 1.000 4 2003 2011
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 12 0.010 None 1.000 1 2010 2010
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