DisGeNET - a database of gene-disease associations

RCBTB1, RCC1 and BTB domain containing protein 1, 55213

N. diseases: 112; N. variants: 13

Disease: Exudative retinopathy ×

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:	C0154832
Disease:	Exudative retinopathy

Exudative retinopathy

0.410

Biomarker

disease

BEFREE

Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.

26908610

2016

CUI:	C0154832
Disease:	Exudative retinopathy

Exudative retinopathy

0.410

Biomarker

disease

GENOMICS_ENGLAND

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

27486781

2016

CUI:	C0154832
Disease:	Exudative retinopathy

Exudative retinopathy

0.410

GeneticVariation

disease

CLINVAR