DisGeNET - a database of gene-disease associations

Muscle Hypertonia, C0026826

Gene: SMC1A ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

Biomarker

phenotype

HPO