DisGeNET - a database of gene-disease associations

PERRAULT SYNDROME 4, C3809105

Variant: rs199589947 ×

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:

rs199589947

rs199589947

LARS2 ; LARS2-AS1

0.800

GeneticVariation

UNIPROT

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

2013

dbSNP:

rs199589947

rs199589947

LARS2 ; LARS2-AS1

A

0.800

CausalMutation

CLINVAR