DisGeNET - a database of gene-disease associations

REEP6, receptor accessory protein 6, 92840

N. diseases: 46; N. variants: 6

Disease: Rod-Cone Dystrophy ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4551714
Disease:	Rod-Cone Dystrophy

Rod-Cone Dystrophy

0.110

GeneticVariation

disease

BEFREE

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

2018

CUI:	C4551714
Disease:	Rod-Cone Dystrophy

Rod-Cone Dystrophy

0.110

Biomarker

disease

HPO