DisGeNET - a database of gene-disease associations

GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY, C1864651

Variant: rs121918110 ×

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:

rs121918110

PSAP

0.800

GeneticVariation

UNIPROT

Non-neuronopathic Gaucher disease due to saposin C deficiency.

17919309

2007

dbSNP:

rs121918110

PSAP

0.800

GeneticVariation

UNIPROT

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.

2060627

1991

dbSNP:

rs121918110

PSAP

0.800

CausalMutation

CLINVAR