Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.400 CausalMutation CLINVAR Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. 26960314

2016
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.400 GeneticVariation CLINVAR Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association. 25800244

2015
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.400 CausalMutation CLINVAR TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. 22419703

2012
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.400 CausalMutation CLINVAR Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma. 22541004

2012
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.400 CausalMutation CLINVAR Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.400 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010