DisGeNET - a database of gene-disease associations

Variant: rs4713376 ×

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:

rs4713376

LINC00243

CUI:	C0270911
Disease:	Charcot-Marie-Tooth Disease, Type Ia (disorder)

Charcot-Marie-Tooth Disease, Type Ia (disorder)

0.700

GeneticVariation

GWASCAT

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

2019