DisGeNET - a database of gene-disease associations

Pheochromocytoma, C0031511

Variant: rs121908827 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908827

TMEM127

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121908827

TMEM127

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs121908827

TMEM127

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs121908827

TMEM127

0.800

GeneticVariation

UNIPROT

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

20154675

2010

dbSNP:

rs121908827

TMEM127

0.800

GeneticVariation

UNIPROT

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

21156949

2010

dbSNP:

rs121908827

TMEM127

0.800

GeneticVariation

CLINVAR