DisGeNET - a database of gene-disease associations

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8, C3553813

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:

rs387907300

rs387907300

POMGNT2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907300

rs387907300

POMGNT2

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553618354

rs1553618354

POMGNT2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs374042455

rs374042455

POMGNT2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs387907299

rs387907299

POMGNT2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777798

rs587777798

CRPPA ; CRPPA-AS1

A

0.700

GeneticVariation

CLINVAR