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: 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
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.800 None 0.978 46 10 1998 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.550 None 0.833 6 1999 2017
Maturity onset diabetes mellitus in young
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.500 strong 1.000 35 1998 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.500 None 0.864 22 7 2007 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.450 None 0.800 5 1999 2017
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.410 None 1.000 1 1 2017 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.330 None 1.000 4 2004 2008
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.330 None 1.000 3 2015 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 10 1 0.330 None 1.000 3 2009 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.320 None 1.000 2 2006 2016
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.310 strong 1.000 2 2012 2015
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: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.310 strong 1.000 1 2004 2004
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
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
DIABETES MELLITUS, PERMANENT NEONATAL
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 0.300 strong 1.000 1 2006 2006
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.300 None 1.000 1 2008 2008
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 0
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.300 None 0
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 0
CUI: C3281138
Disease: CHROMOSOME 17q12 DELETION SYNDROME
CHROMOSOME 17q12 DELETION SYNDROME
disease Disease or Syndrome 2 0.300 None 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 0.952 42 4 1998 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.200 None 0.903 31 11 2007 2020
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 170 17 0.200 None 1.000 13 2004 2019