DisGeNET - a database of gene-disease associations

Global developmental delay, C0557874

Variant: rs142441643 ×

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:

rs142441643

SDHA

0.700

CausalMutation

CLINVAR

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

28384794

2017

dbSNP:

rs142441643

SDHA

0.700

CausalMutation

CLINVAR

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

26269449

2015

dbSNP:

rs142441643

SDHA

0.700

CausalMutation

CLINVAR

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

23612575

2014

dbSNP:

rs142441643

SDHA

0.700

CausalMutation

CLINVAR

SDHA is a tumor suppressor gene causing paraganglioma.

20484225

2010