DisGeNET - a database of gene-disease associations

Microcephaly-capillary malformation syndrome, C3280296

Variant: rs397509387 ×

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:

rs397509387

STAMBP ; LOC105374807

0.800

GeneticVariation

UNIPROT

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

23542699

2013

dbSNP:

rs397509387

STAMBP ; LOC105374807

0.800

GeneticVariation

CLINVAR

dbSNP:

rs397509387

STAMBP ; LOC105374807

0.800

CausalMutation

CLINVAR