DisGeNET - a database of gene-disease associations

Gene: ABCA4 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

1.000

GermlineCausalMutation

ORPHANET

Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.

2010