DisGeNET - a database of gene-disease associations

ARHGEF12, Rho guanine nucleotide exchange factor 12, 23365

N. diseases: 34; N. variants: 36

Disease: Glaucoma ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.110

GeneticVariation

disease

GWASCAT

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

30054594

2018

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.110

Biomarker

disease

BEFREE

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.

25637523

2015