DisGeNET - a database of gene-disease associations

Leber Congenital Amaurosis, C0339527

Gene: MPP5 ×

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:	64398
Gene Symbol:	MPP5

MPP5

0.210

Biomarker

disease

BEFREE

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.

2012

Entrez Id:	64398
Gene Symbol:	MPP5

MPP5

0.210

Biomarker

disease

MGD