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: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 103 40 0.500 strong 1.000 35 1998 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.100 None 1.000 16 2003 2019
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 93 6 0.200 None 1.000 13 2004 2019
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 48 8 0.090 None 1.000 9 2009 2020
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 102 0.090 None 1.000 9 2003 2019
CUI: C1968949
Disease: Cakut
Cakut 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 65 3 0.080 None 1.000 8 2010 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1006 155 0.060 None 0.833 6 2002 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1958 182 0.450 None 0.800 5 1999 2017
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 355 36 0.050 None 0.800 5 2003 2018
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2274 203 0.550 None 0.833 5 1999 2017
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 80 1 0.050 None 1.000 5 2002 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355 0.050 None 1.000 5 2005 2019
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: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 39 0.040 None 1.000 4 2012 2019
CUI: C4020705
Disease: Glomerulocystic kidney disease
Glomerulocystic kidney disease 		disease Disease or Syndrome 11 2 0.040 None 1.000 4 2001 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.040 None 1.000 4 1998 2019
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		disease Disease or Syndrome 13 3 0.040 None 1.000 4 2003 2019
CUI: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome 		disease Disease or Syndrome 1 0.040 None 1.000 4 2012 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2375 90 0.040 None 1.000 4 2005 2019
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 35 1 0.040 None 1.000 4 2006 2019
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: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.030 None 1.000 3 2004 2018
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: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 27 3 0.030 None 1.000 3 2011 2017
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 19 0.030 None 1.000 3 2004 2019