DisGeNET - a database of gene-disease associations

Gene: PRPF8 ×

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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:	10594
Gene Symbol:	PRPF8

PRPF8

CUI:	C0154860
Disease:	Hereditary retinal dystrophy

Hereditary retinal dystrophy

0.200

Biomarker

MGD

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.

2011