DisGeNET - a database of gene-disease associations

Spinal Muscular Atrophy, Distal, X-Linked 3, C1845359

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:

rs267606672

rs267606672

ATP7A ; PGK1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs267606672

rs267606672

ATP7A ; PGK1

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs1557236729

rs1557236729

ATP7A ; PGK1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1557237451

rs1557237451

ATP7A ; PGK1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1557238665

rs1557238665

ATP7A ; PGK1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1569549699

rs1569549699

ATP7A ; PGK1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569549974

rs1569549974

ATP7A ; PGK1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606673

rs267606673

ATP7A ; PGK1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045332

rs797045332

ATP7A ; PGK1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045397

rs797045397

ATP7A ; PGK1

A

0.700

CausalMutation

CLINVAR