DisGeNET - a database of gene-disease associations

CNGB3, cyclic nucleotide gated channel subunit beta 3, 54714

N. diseases: 67; N. variants: 109

Disease: Stargardt's disease ×

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:	C0271093
Disease:	Stargardt's disease

Stargardt's disease

0.500

GeneticVariation

phenotype

ORPHANET

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

15712225

2005

CUI:	C0271093
Disease:	Stargardt's disease

Stargardt's disease

0.500

Biomarker

phenotype

CTD_human