Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 4286
Gene Symbol: MITF
MITF
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. 27680874

2017

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: 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: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
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
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
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: 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: 4191
Gene Symbol: MDH2
MDH2
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. 25766404

2015

Entrez Id: 112398
Gene Symbol: EGLN2
EGLN2
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: 2271
Gene Symbol: FH
FH
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Germline FH mutations presenting with pheochromocytoma. 25004247

2015

Entrez Id: 4149
Gene Symbol: MAX
MAX
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
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: 2271
Gene Symbol: FH
FH
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. 24334767

2014

Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas. 24322175

2014

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN RNA helicase A is a downstream mediator of KIF1Bβ tumor-suppressor function in neuroblastoma. 24469107

2014

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. 24694336

2014

Entrez Id: 4149
Gene Symbol: MAX
MAX
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
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: 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: 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: 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: 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: 6390
Gene Symbol: SDHB
SDHB
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN SDH mutations establish a hypermethylator phenotype in paraganglioma. 23707781

2013

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
0.300 Biomarker CLINGEN Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. 23750034

2013