DisGeNET - a database of gene-disease associations

RD3, retinal degeneration 3, GUCY2D regulator, 343035

N. diseases: 36; N. variants: 5

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:

rs386834260

rs386834260

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C0339527
Disease:

Leber Congenital Amaurosis

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs386834260

rs386834260

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C1857743
Disease:

LEBER CONGENITAL AMAUROSIS 12 (disorder)

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs762631020

rs762631020

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C1857743
Disease:

LEBER CONGENITAL AMAUROSIS 12 (disorder)

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs786205148

rs786205148

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C1857743
Disease:

LEBER CONGENITAL AMAUROSIS 12 (disorder)

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs786205149

rs786205149

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C1857743
Disease:

LEBER CONGENITAL AMAUROSIS 12 (disorder)

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs786205150

rs786205150

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C1857743
Disease:

LEBER CONGENITAL AMAUROSIS 12 (disorder)

A

0.700

CausalMutation

CLINVAR