DisGeNET - a database of gene-disease associations

ABCB6, ATP binding cassette subfamily B member 6 (Langereis blood group), 10058

N. diseases: 400; N. variants: 19

Disease: Congenital coloboma of iris ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0266551
Disease:	Congenital coloboma of iris

Congenital coloboma of iris

0.300

GermlineCausalMutation

disease

ORPHANET

ABCB6 mutations cause ocular coloboma.

2012