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 BEFREE Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. 23618813 2013
Entrez Id: 283120
Gene Symbol: H19
H19 		0.040 GeneticVariation disease BEFREE Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. 23618813 2013
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR A 3-year-old child with abdominal pain and fever. 16264060 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. 16151905 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing. 21098024 2011
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 18625664 2008
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 22818240 2012
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 22818240 2012
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 15877209 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 15877209 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 15877209 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 17011332 2006
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 17011332 2006
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. 17876723 2007
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. 15241805 2004
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. 15241805 2004
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. 26084044 2015
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease BEFREE An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene. 31132580 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253 2014
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 Biomarker disease BEFREE Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice. 21214563 2011
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function. 18052040 2007
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A. 26913189 2015