DisGeNET - a database of gene-disease associations

OOCYTE MATURATION DEFECT 4, C4540284

Variant: rs1156737044 ×

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:

rs1156737044

rs1156737044

PATL2

C

0.800

GeneticVariation

CLINVAR

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

2017

dbSNP:

rs1156737044

rs1156737044

PATL2

0.800

GeneticVariation

UNIPROT