DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Pheochromocytoma ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs75996173

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.850

GeneticVariation

UNIPROT

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

24493721

2014

dbSNP:

rs75996173

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.850

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs75996173

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.850

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs77724903

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.830

GeneticVariation

UNIPROT

dbSNP:

rs75076352

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.820

GeneticVariation

UNIPROT

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

24493721

2014

dbSNP:

rs75076352

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.820

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs75076352

RET

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.820

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs5030824

VHL

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.810

GeneticVariation

UNIPROT

dbSNP:

rs104893826

VHL

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

dbSNP:

rs121908827

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs121908827

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

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

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs121908827

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

20154675

2010

dbSNP:

rs121908827

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

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

21156949

2010

dbSNP:

rs121908828

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

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:

rs121908828

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs121908828

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs121908828

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

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

21156949

2010

dbSNP:

rs121908828

TMEM127

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

20154675

2010

dbSNP:

rs121917755

SDHB

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs121917755

SDHB

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

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:

rs121917755

SDHB

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs121917755

SDHB

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Somatic SDHB mutation in an extraadrenal pheochromocytoma.

17634472

2007

dbSNP:

rs121917755

SDHB

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

15328326

2004

dbSNP:

rs121917755

SDHB

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

12618761

2003