DisGeNET - a database of gene-disease associations

SURF1-related Charcot-Marie-Tooth disease type 4, C4225246

Variant: rs782190413 ×

Source: ALL

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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:

rs782190413

rs782190413

SURF1

0.800

GeneticVariation

UNIPROT

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

2013

dbSNP:

rs782190413

rs782190413

SURF1

A

0.800

CausalMutation

CLINVAR