DisGeNET - a database of gene-disease associations

MACULAR DEGENERATION, AGE-RELATED, 5, C3151063

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:

rs121917901

rs121917901

ERCC6

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121917902

rs121917902

ERCC6 ; PGBD3

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs373227647

rs373227647

ERCC6

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs376526037

rs376526037

ERCC6

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs3793784

rs3793784

ERCC6

C

0.700

SusceptibilityMutation

CLINVAR