VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
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: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.100 None 1.000 15 1 1994 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 14 1995 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.080 None 1.000 8 1999 2019
Vascular endothelial growth factor overexpression
disease Disease or Syndrome 26 0.040 None 1.000 4 2002 2019
CUI: C4727069
Disease: Advanced Renal Cell Carcinoma
Advanced Renal Cell Carcinoma
disease Neoplastic Process 27 0.040 None 1.000 4 2007 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 1998 2009
CUI: C4054076
Disease: Renal Angiomyoadenomatous Tumor
Renal Angiomyoadenomatous Tumor
disease Neoplastic Process 3 0.020 None 1.000 2 2011 2015
Fenestration (morphologic abnormality)
disease Acquired Abnormality 43 0.010 None 1.000 1 2012 2012
Erythrocytosis due to tissue hypoxemia
disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2006 2006
Polycythemia due to fall in plasma volume
disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C0865276
Disease: Polycythemia due to high altitude
Polycythemia due to high altitude
disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C1334971
Disease: Nodular Neoplasm
Nodular Neoplasm
disease Neoplastic Process 3 0.010 None 1.000 1 2014 2014
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.010 None 1.000 1 1997 1997
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm
disease Neoplastic Process 105 2 0.010 None 1.000 1 1994 1994
THYROID CARCINOMA, SPORADIC MEDULLARY
disease Neoplastic Process 22 11 0.010 None 1.000 1 1996 1996
CUI: C1860392
Disease: Renal hemangioblastoma
Renal hemangioblastoma
disease Neoplastic Process 2 0.300 strong 1.000 1 2016 2016
CUI: C2873823
Disease: Polycythemia due to erythropoietin
Polycythemia due to erythropoietin
disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C2873824
Disease: Polycythemia due to stress
Polycythemia due to stress
disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
disease Disease or Syndrome 16 62 0.010 None 1.000 1 2015 2015
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.010 None 1.000 1 2013 2013
CUI: C4518570
Disease: Aggressive papillary tumor
Aggressive papillary tumor
disease Neoplastic Process 1 0.010 None 1.000 1 2008 2008
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.010 None 1.000 1 1997 1997
CUI: C4744469
Disease: Cerebral Hemangioblastoma
Cerebral Hemangioblastoma
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0232370
Disease: Florid red complexion (finding)
Florid red complexion (finding)
phenotype Finding 3 0.100 None 0