DisGeNET - a database of gene-disease associations

CNGB3, cyclic nucleotide gated channel subunit beta 3, 54714

N. diseases: 67; N. variants: 109

Disease: Achromatopsia 3 ×

Variant: rs775796581 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs775796581

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C1849792
Disease:

Achromatopsia 3

0.700

CausalMutation

CLINVAR

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

28795510

2017

dbSNP:

rs775796581

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C1849792
Disease:

Achromatopsia 3

0.700

CausalMutation

CLINVAR

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

17652762

2007

dbSNP:

rs775796581

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C1849792
Disease:

Achromatopsia 3

0.700

CausalMutation

CLINVAR

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

15657609

2005

dbSNP:

rs775796581

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C1849792
Disease:

Achromatopsia 3

0.700

CausalMutation

CLINVAR

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

15712225

2005

dbSNP:

rs775796581

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C1849792
Disease:

Achromatopsia 3

0.700

CausalMutation

CLINVAR

Genetic basis of total colourblindness among the Pingelapese islanders.

10888875

2000