rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
25371412
2014
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
19602254
2009
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.
17350623
2007
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.
14987375
2001
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.
10900011
2000
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
9452032
1998
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2.
9447969
1998
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
9829912
1998
rs5030814
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
C
0.700
CausalMutation
CLINVAR
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
8707293
1996