DisGeNET - a database of gene-disease associations

CNGB3, cyclic nucleotide gated channel subunit beta 3, 54714

N. diseases: 67; N. variants: 109

Disease: Cone-Rod Dystrophies ×

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:	C4085590
Disease:	Cone-Rod Dystrophies

Cone-Rod Dystrophies

0.100

CausalMutation

disease

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

2019