Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 Biomarker disease CTD_human
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 2023926 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. 1840600 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. 1885770 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 1718266 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 2023926 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 2023926 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. 1885770 1991
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 1391960 1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. 1618760 1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. 1618760 1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 1391960 1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 1391960 1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. 1618760 1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive. 8407868 1993
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease. 8499909 1993
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. 8401540 1993
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. 8225311 1993
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Occurrence of two molecular forms of human acid sphingomyelinase. 8053910 1994
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Occurrence of two molecular forms of human acid sphingomyelinase. 8053910 1994
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. 8693491 1995
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. 7762557 1995
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. 8680412 1995
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. 8680412 1995
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease BEFREE Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. 8693491 1995