DisGeNET - a database of gene-disease associations

Linear atrophy, C0152459

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:

rs113422242

rs113422242

FBN1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1232880706

rs1232880706

FBN1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854461

rs137854461

FBN1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854466

rs137854466

FBN1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555393889

rs1555393889

FBN1

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs80359473

rs80359473

BRCA2

A

0.700

CausalMutation

CLINVAR