DisGeNET - a database of gene-disease associations

Abnormality of vision, C4025846

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057518922

rs1057518922

RPE65

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555618516

rs1555618516

NF1

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555740394

rs1555740394

PRR12

CCCCACCA

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555740650

rs1555740650

PRR12

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555741826

rs1555741826

PRR12

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs1560162116

rs1560162116

ALG3

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1560164682

rs1560164682

ALG3

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs777103184

rs777103184

PCARE

T

0.700

CausalMutation

CLINVAR