DisGeNET - a database of gene-disease associations

Endometriosis of ovary, C0156344

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:

rs17860508

LOC285626

0.010

GeneticVariation

BEFREE

Compared with the CTCTAA/CTCTAA genotype, the GC/GC and GC/CTCTAA genotypes of rs17860508 could significantly increase the risk of ovarian endometriosis development (OR = 1.58, 95% CI = 1.19-2.09; OR = 1.37, 95% CI = 1.08-1.74, respectively).

29738836

2018

dbSNP:

rs3212227

IL12B

0.010

GeneticVariation

BEFREE

However, the rs3212227 polymorphism may not be associated with a risk of ovarian endometriosis.

29738836

2018

dbSNP:

rs12700667

0.010

GeneticVariation

BEFREE

The study suggests that the endometriosis-associated genetic polymorphisms (rs12700667) from GWAS be associated with the risk of developing ovarian endometriosis in North Chinese women.

27233752

2017