Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4-0.6/100,000. 31122880 2020
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). 30514648 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann-Pick disease (NPD) is a hereditary lysosomal storage disorder in which mutations in the sphingomyelin phosphodiesterase gene leads to partial or complete deficiency of the sphingomyelinase enzyme. 29845436 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 AlteredExpression group BEFREE We identified four compounds with beneficial effects, i.e., increased ASM activity inhibition and reduced PLD induction compared with the original drugs. 30191367 2018
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. 28406489 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. 28228103 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. 28801223 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Acid sphingomyelinase (ASM)-deficient Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. 27338287 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase (ASM) activity. 25920558 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. 26084044 2015
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Types A and B Niemann-Pick disease (NPD) are autosomal-recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. 25811928 2015
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE SMPD1 underlies the lysosomal storage disease - Niemann-Pick. 26169695 2015
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann Pick disease type A (NPA), which is caused by loss of function mutations in the acid sphingomyelinase (ASM) gene, is a lysosomal storage disorder leading to neurodegeneration. 24488099 2014
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Mutations in the ASM gene (SMPD1) result in the rare lysosomal storage disorder, Niemann-Pick disease (NPD). 23290778 2013
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Niemann-Pick disease is a lysosomal storage disorder resulting from inherited deficiency in acid sphingomyelinase (ASM). 22574943 2012
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann-Pick disease (NPD) is a lysosomal storage disease caused by the loss of acid sphingomyelinase (ASMase) that features neurodegeneration and liver disease. 22102288 2012
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 AlteredExpression group BEFREE Gene replacement therapy for the neurological deficits caused by lysosomal storage disorders, such as in Niemann-Pick disease type A, will require widespread expression of efficacious levels of acid sphingomyelinase (ASM) in the infant human brain. 20408734 2010
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Niemann-Pick A (NPA) disease is a lysosomal storage disorder (LSD) caused by a deficiency in acid sphingomyelinase (ASM) activity. 19059399 2009
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Acid sphingomyelinase (ASM; E.C.3.1.4.12) is best known for its involvement in the lysosomal storage disorder Niemann-Pick disease (NPD). 18567738 2008
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase due to mutations in the SMPD1 gene. 16010684 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Niemann-Pick type A disease is a lysosomal storage disorder caused by a deficiency in acid sphingomyelinase (ASM) activity. 16301517 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Niemann-Pick A disease (NPA) is a fatal lysosomal storage disorder caused by a deficiency in acid sphingomyelinase (ASM) activity. 15851014 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 GeneticVariation group BEFREE Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from loss of acid sphingomyelinase (ASM) activity. 11994407 2002
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 AlteredExpression group BEFREE Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from the deficient activity of acid sphingomyelinase (ASM). 7578419 1995
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.100 Biomarker group BEFREE Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). 7600574 1995