SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Disease: Niemann-Pick Disease, Type B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123478
rs398123478
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease:
Niemann-Pick Disease, Type B 		T 0.710 CausalMutation CLINVAR Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 27338287 2016
dbSNP: rs398123478
rs398123478
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease:
Niemann-Pick Disease, Type B 		T 0.710 CausalMutation CLINVAR R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. 23188845 2012
dbSNP: rs398123478
rs398123478
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease:
Niemann-Pick Disease, Type B 		T 0.710 GeneticVariation CLINVAR Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow. 22796693 2012
dbSNP: rs398123478
rs398123478
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease:
Niemann-Pick Disease, Type B 		0.710 GeneticVariation BEFREE R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. 23188845 2012
dbSNP: rs398123478
rs398123478
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease:
Niemann-Pick Disease, Type B 		T 0.710 CausalMutation CLINVAR Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow. 22796693 2012
dbSNP: rs398123478
rs398123478
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease:
Niemann-Pick Disease, Type B 		T 0.710 GeneticVariation CLINVAR R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. 23188845 2012