DisGeNET - a database of gene-disease associations

Primary angle-closure glaucoma, C0017606

Variant: rs12138977 ×

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:

rs12138977

COL11A1

0.030

GeneticVariation

BEFREE

Moreover, the rs12138977 polymorphism and corneal thickness had little influence on the occurrence of primary angle-closure glaucoma (PACG).

31389567

2019

dbSNP:

rs12138977

COL11A1

0.030

GeneticVariation

BEFREE

Our data suggested that COL11A1 rs1676484, rs3753841, and rs12138977 polymorphisms may be of value for further study as potential gene-dependent risk factors for developing PACG.

30809385

2019

dbSNP:

rs12138977

COL11A1

0.030

GeneticVariation

BEFREE

Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma.

24854855

2014