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: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma
disease Neoplastic Process 103 0.090 None 1.000 9 2003 2019
CUI: C4020705
Disease: Glomerulocystic kidney disease
Glomerulocystic kidney disease
disease Disease or Syndrome 11 2 0.040 None 1.000 4 2001 2015
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
Prostate specific antigen measurement
phenotype Laboratory Procedure 25 95 0.100 None 1.000 3 5 2010 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 0.667 3 1994 2016
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.020 None 0.500 2 2011 2014
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 2 1 2018 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2020
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
disease Anatomical Abnormality 12 4 0.110 None 1.000 2 1 2017 2019
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis
disease Disease or Syndrome 89 0.010 None 1.000 1 2007 2007
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis
disease Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C0334054
Disease: cystic disease
cystic disease
disease Disease or Syndrome 19 0.010 None 1.000 1 2004 2004
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
Metastasis from malignant tumor of prostate
disease Neoplastic Process 342 18 0.010 None 1.000 1 2020 2020
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 2 2017 2017
CUI: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus
disease Disease or Syndrome 21 11 0.010 None 1.000 1 2020 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2010 2010
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 1 1 2016 2016
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION
phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2018 2018
CUI: C1862260
Disease: BPES type I
BPES type I
disease Disease or Syndrome 2 1 0.010 None 1.000 1 2014 2014
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.010 None 1.000 1 2019 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 1 1 2016 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 1 1 2016 2016