DisGeNET - a database of gene-disease associations

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, C4225302

Variant: rs200725073 ×

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:

rs200725073

rs200725073

SLC25A46

0.800

GeneticVariation

UNIPROT

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

2015

dbSNP:

rs200725073

rs200725073

SLC25A46

A

0.800

CausalMutation

CLINVAR