DisGeNET - a database of gene-disease associations

Paraganglioma, C0030421

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.800

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.800

CausalMutation

disease

CGI

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.800

Biomarker

disease

HPO

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.700

CausalMutation

disease

CGI

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.700

GeneticVariation

disease

CLINVAR

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.700

Biomarker

disease

HPO

Entrez Id:	6391
Gene Symbol:	SDHC

SDHC

0.500

GeneticVariation

disease

CLINVAR

Entrez Id:	7428
Gene Symbol:	VHL

VHL

0.500

Biomarker

disease

HPO

Entrez Id:	6391
Gene Symbol:	SDHC

SDHC

0.500

CausalMutation

disease

CGI

Entrez Id:	6391
Gene Symbol:	SDHC

SDHC

0.500

Biomarker

disease

HPO

Entrez Id:	55654
Gene Symbol:	TMEM127

TMEM127

0.400

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	54949
Gene Symbol:	SDHAF2

SDHAF2

0.400

CausalMutation

disease

CGI

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

0.340

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	7157
Gene Symbol:	TP53

TP53

0.310

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

0.300

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

0.200

Biomarker

disease

HPO

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

0.130

Biomarker

disease

HPO

Entrez Id:	472
Gene Symbol:	ATM

ATM

0.110

CausalMutation

disease

CLINVAR

Entrez Id:	1743
Gene Symbol:	DLST

DLST

0.110

Biomarker

disease

HPO

Entrez Id:	595
Gene Symbol:	CCND1

CCND1

0.110

Biomarker

disease

HPO

Entrez Id:	8402
Gene Symbol:	SLC25A11

SLC25A11

0.100

Biomarker

disease

HPO

Entrez Id:	1616
Gene Symbol:	DAXX

DAXX

0.100

Biomarker

disease

HPO

Entrez Id:	160140
Gene Symbol:	C11orf65

C11orf65

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	6750
Gene Symbol:	SST

SST

0.100

Biomarker

disease

BEFREE

<sup>68</sup>Ga-somatostatin receptor analogs and <sup>18</sup>F-FDG PET/CT in the localization of metastatic pheochromocytomas and paragangliomas with germline mutations: a meta-analysis.

29566550

2018

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.800

GeneticVariation

disease

BEFREE

(18)F-DOPA PET and magnetic resonance imaging (MRI) were performed in ten consecutive patients with proven mutations of the succinate dehydrogenase subunit D ( SDHD) gene predisposing to the development of glomus tumours and other paragangliomas.

12618904

2003