DisGeNET - a database of gene-disease associations

Niemann-Pick Disease, Type A, C0268242

Variant: rs727504166 ×

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:

rs727504166

SMPD1

0.700

GeneticVariation

CLINVAR

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.

27725636

2016

dbSNP:

rs727504166

SMPD1

0.700

GeneticVariation

CLINVAR

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

16434659

2006

dbSNP:

rs727504166

SMPD1

0.700

GeneticVariation

CLINVAR

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

17011332

2006

dbSNP:

rs727504166

SMPD1

0.700

GeneticVariation

CLINVAR

Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.

8407868

1993