DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Coloboma of choroid and retina ×

Gene: ABCB6 ×

Results per page

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C4708599
Disease:	Coloboma of choroid and retina

Coloboma of choroid and retina

0.300

GermlineCausalMutation

ORPHANET

ABCB6 mutations cause ocular coloboma.

2012