Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. 28162975

2017

Entrez Id: 4286
Gene Symbol: MITF
MITF
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. 27680874

2017

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016

Entrez Id: 4233
Gene Symbol: MET
MET
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. 26700204

2016

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. 26032282

2016

Entrez Id: 2271
Gene Symbol: FH
FH
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors. 26472283

2016

Entrez Id: 10461
Gene Symbol: MERTK
MERTK
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. 26700204

2016

Entrez Id: 2271
Gene Symbol: FH
FH
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Germline FH mutations presenting with pheochromocytoma. 25004247

2015

Entrez Id: 4149
Gene Symbol: MAX
MAX
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. 23551045

2015

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965

2015

Entrez Id: 112398
Gene Symbol: EGLN2
EGLN2
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965

2015

Entrez Id: 4191
Gene Symbol: MDH2
MDH2
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. 25766404

2015

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. 24694336

2014

Entrez Id: 2271
Gene Symbol: FH
FH
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. 24334767

2014

Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas. 24322175

2014

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN RNA helicase A is a downstream mediator of KIF1Bβ tumor-suppressor function in neuroblastoma. 24469107

2014

Entrez Id: 4149
Gene Symbol: MAX
MAX
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X. 24676840

2014

Entrez Id: 2271
Gene Symbol: FH
FH
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN SDH mutations establish a hypermethylator phenotype in paraganglioma. 23707781

2013

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011

2013

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246

2013

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. 22889334

2013

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. 23010473

2013

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
Benign neoplasm of aortic body and other paraganglia
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: 6389
Gene Symbol: SDHA
SDHA
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. 23750034

2013

Entrez Id: 6391
Gene Symbol: SDHC
SDHC
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013