DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 ×

Variant: rs869320697 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869320697

CTNNA1

CUI:	C1837029
Disease:	Macular Dystrophy, Butterfly-Shaped Pigmentary, 2

Macular Dystrophy, Butterfly-Shaped Pigmentary, 2

0.800

GeneticVariation

UNIPROT

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

26691986

2016

dbSNP:

rs869320697

CTNNA1

CUI:	C1837029
Disease:	Macular Dystrophy, Butterfly-Shaped Pigmentary, 2

Macular Dystrophy, Butterfly-Shaped Pigmentary, 2

0.800

CausalMutation

CLINVAR