DisGeNET - a database of gene-disease associations

PRCD, photoreceptor disc component, 768206

N. diseases: 40; N. variants: 6

Disease: RETINITIS PIGMENTOSA 36 ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

GeneticVariation

disease

UNIPROT

Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization.

27613864

2016

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

GeneticVariation

disease

UNIPROT

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.

24992209

2014

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

GeneticVariation

disease

UNIPROT

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

16938425

2006

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

Biomarker

disease

CTD_human

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

CausalMutation

disease

CLINVAR

CUI:	C1864621
Disease:	RETINITIS PIGMENTOSA 36

RETINITIS PIGMENTOSA 36

0.700

Biomarker

disease

GENOMICS_ENGLAND