DisGeNET - a database of gene-disease associations

OOCYTE MATURATION DEFECT 4, C4540284

Variant: rs548527219 ×

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:

rs548527219

rs548527219

PATL2

A

0.700

GeneticVariation

CLINVAR

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

2017

dbSNP:

rs548527219

rs548527219

PATL2

A

0.700

CausalMutation

CLINVAR