Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas? 22136840

2012

Entrez Id: 6391
Gene Symbol: SDHC
SDHC
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. 15342702

2004

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma. 23633203

2013

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702

2005

Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. 19628817

2009

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. 28162975

2017

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 11404820

2001

Entrez Id: 10461
Gene Symbol: MERTK
MERTK
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. 26700204

2016

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010

Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma. 22541004

2013

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN The biphasic role of the hypoxia-inducible factor prolyl-4-hydroxylase, PHD2, in modulating tumor-forming potential. 18505927

2008

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Germline mutation of RET codon 883 in two cases of de novo MEN 2B. 9294615

1997

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. 26700204

2016

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016

Entrez Id: 4149
Gene Symbol: MAX
MAX
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers. 22323561

2012

Entrez Id: 4149
Gene Symbol: MAX
MAX
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 21685915

2011

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. 12618761

2003

Entrez Id: 4149
Gene Symbol: MAX
MAX
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964

2013

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B. 10675330

2000

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011

2013

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Induction of human endometrial cancer cell senescence through modulation of HIF-1alpha activity by EGLN1. 16161047

2006

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. 21784903

2012

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. 20583150

2010

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965

2015

Entrez Id: 6391
Gene Symbol: SDHC
SDHC
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. 16249420

2005