HNF1B, HNF1 homeobox B, 6928

N. diseases: 192; N. variants: 17
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: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome 		disease Disease or Syndrome 1 0.040 None 1.000 4 2012 2019
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: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		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 2006 2006
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
CUI: C1567426
Disease: Unilateral Multicystic Dysplastic Kidney
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 1 2010 2013
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.150 None 1.000 5 2013 2020
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2014 2014
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
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 0.800 definitive 1.000 31 1 1997 2019
CUI: C1835171
Disease: Hypomagnesemia 2, renal
Hypomagnesemia 2, 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 5 0.330 None 1.000 3 2009 2017
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
CUI: C1859040
Disease: Medullary Cystic Kidney Disease Type 2
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 0.010 None 1.000 1 2003 2003
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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 1 0.040 None 1.000 4 2003 2011
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
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 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
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2001 2001
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 8 0.110 None 1.000 1 2017 2019
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2014 2014
CUI: C0232491
Disease: Chronic abdominal pain
Chronic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.010 None 1.000 1 2018 2018
CUI: C0279765
Disease: Endometrial Clear Cell Adenocarcinoma
Endometrial Clear Cell Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 10 0.020 None 1.000 2 2016 2019