Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE The aim of this study was to evaluate whether CA9 immunostaining could be used as a tool to predict the presence or validate the pathogenicity of VHL gene mutations in paraganglioma. 31383958 2020
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE This profile resembles that of SDHx- or VHL-mutated PGLs but not of PGLs with decreased VHL copy number, pointing to SDHC rather than VHL as the pathogenic driver. 29126304 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1α stabilization. 28036268 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 AlteredExpression disease BEFREE 3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau. 28332883 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Within the paediatric cohort, bilateral PCC (60% vs. 5%, p=0.002), PCC+sPGL (30% vs. 0%, p=0.03) and occurrence of a second PCC/PGL (30% vs. 0%, p=0.03) were significantly more frequent among children with VHL mutations than others. 28432847 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE PCC/PGL are associated with a variety of hereditary syndromes, comprising genetic alterations in RET, NF1, VHL, and SDHx genes, the last 2 being involved in regulating the hypoxia pathway. 28231563 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 AlteredExpression disease BEFREE RNA expression patterns of HIF2A PGLs (n=6) from 2 patients were compared with normal adrenal medullas (n=8) and other hereditary pseudohypoxic PGLs (VHL: n=13, SDHB: n=15, and SDHD: n=14). 27659016 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE It is unknown whether BAT is specifically affected by altered cellular energy metabolism in patients with SDHx- and VHL-related PGLs. 26574955 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes. 25683602 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE The present study gives a comprehensive picture of alterations in energy metabolism in SDH- and VHL-related PGLs and establishes the interrelationship of energy metabolism and amino acid and purine metabolism in PGLs. 25459911 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE This allowed for reconstructing the life history of individual tumors, identifying somatic mutations as well as copy-number loss of 3p and 11p (VHL subgroup), 1p (Cluster 2), and 17q (NF1 subgroup) as early events in PPGL tumorigenesis. 25991818 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS. 24466223 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliomas, but the role of VHL in sympathoadrenal homeostasis is unknown. 25385837 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE We hypothesised that PC/PGLs containing SDHx or VHL mutations, and succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours (GISTs), would overexpress miR-210 relative to non-SDH or -VHL-mutated counterparts. miR-210 was analysed by quantitative PCR in i) 39 PC/PGLs, according to genotype (one SDHA, five SDHB, seven VHL, three NF1, seven RET, 15 sporadic, one unknown) and pathology (18 benign, eight atypical, 11 malignant, two unknown); ii) 18 GISTs, according to SDHB immunoreactivity (nine SDH-deficient and nine SDH-proficient) and iii) two novel SDHB-mutant neurosphere cell lines. miR-210 was higher in SDHx- or VHL-mutated PC/PGLs (7.6-fold) compared with tumours without SDHx or VHL mutations (P=0.0016). miR-210 was higher in malignant than in unequivocally benign PC/PGLs (P=0.05), but significance was lost when benign and atypical tumours were combined (P=0.08). 24623741 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 AlteredExpression disease BEFREE For the VHL gene we found increased MetI in tumors as compared with normal adrenals (57% vs. 27%; P<0.001), in malignant vs. benign tumors (63% vs. 55%; P<0.05), and in PGL vs. PCC (66% vs. 55%; P<0.0005). 24149047 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 23902947 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE PCC/PGL are still thought of as the "tumor of tens," with 10 % being hereditary; however, recent population based studies suggest that up to 32 % of patients have a germline mutation in one of the known common susceptibility genes (including NF1, VHL, RET, SDHB, SDHD, and SDHC). 23512077 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Genetic analysis on known susceptibility genes for paragangliomas (VHL, RET, SDHB, SDHC, SDHD, and SDHAF2) was performed in 17 consecutive patients with head/neck paraganglioma (age range, 14-82 years) and 17 relatives. 22290790 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Pheochromocytomas (PHEOs) and paragangliomas (PGLs) related to mutations in the mitochondrial succinate dehydrogenase (SDH) subunits A, B, C, and D, SDH complex assembly factor 2, and the von Hippel-Lindau (VHL) genes share a pseudohypoxic expression profile. 23555188 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. 23418310 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE No genetic alterations to the VHL and SDHB genes were detected in either the tumor tissue or tissues adjacent to the tumor, which led us to rule out a hereditary syndrome that could explain the association between paraganglioma and chromophobe renal cell carcinoma in a patient with arterial hypertension. 22344361 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Head and neck paragangliomas are rarely associated with mutations of VHL, RET, or NF1. 22584701 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 GeneticVariation disease BEFREE Germline mutations in the RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, NF1 or VHL genes are identified in about 30% of patients with pheochromocytoma or paraganglioma and somatic mutations in RET, VHL or MAX genes are reported in 17% of sporadic tumors. 22962301 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.500 Biomarker disease BEFREE Germline mutations in the susceptibility genes RET, SDHB, SDHD, and VHL have been reported in 7.5-24% of patients with pheochromocytoma (Pheo) or paraganglioma (PGL) and sporadic presentation. 22270996 2012