DisGeNET - a database of gene-disease associations

Patterned dystrophy of retinal pigment epithelium, C1868569

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1495
Gene Symbol:	CTNNA1

CTNNA1

0.300

Biomarker

disease

CTD_human

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

2016

Entrez Id:	5961
Gene Symbol:	PRPH2

PRPH2

0.300

Biomarker

disease

CTD_human

Entrez Id:	7867
Gene Symbol:	MAPKAPK3

MAPKAPK3

0.300

Biomarker

disease

CTD_human