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 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 Biomarker disease BEFREE Utilizing the NPDA/B mouse model ASM<sup>-/-</sup> and wild type (WT) littermates, we performed excitation-contraction coupling/Ca<sup>2+</sup> mobilization and sarcolemma injury/repair assays with isolated flexor digitorum brevis fibers, proteomic analyses with quadriceps femoris, flexor digitorum brevis, and tibialis posterior muscle and in vivo tests of the contractile force (maximal isometric torque) of the quadriceps femoris muscle before and after eccentric contraction-induced muscle injury. 30611303 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease BEFREE The enzyme activity of the HIRMAb-enzyme fusion protein is preserved for hexosaminidase A, which is mutated in Tay Sachs disease, for protein palmitoylthioesterase-1, which is mutated in Batten disease type 1, acid sphingomyelinase, which is mutated in Niemann Pick disease type A, and beta galactosidase-1, which is mutated in GM1 gangliosidosis. 31819150 2019
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 Biomarker disease BEFREE In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. 31142470 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 Biomarker disease BEFREE We establish that an NPA patient and the acid sphingomyelinase knockout (ASMko) mouse model show amoeboid microglia in neurodegeneration-prone areas. 30530526 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 28600779 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 Biomarker disease BEFREE Using ASM knockout (ASMko) mice as a NPA disease model, we investigated how high SM levels contribute to neural pathology in NPA. 27620840 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 27338287 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease BEFREE Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. 27659707 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. 27238910 2016
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 SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). 25834946 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 27338287 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 Biomarker disease GENOMICS_ENGLAND SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. 26851525 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. 27725636 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease BEFREE Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. 26851525 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 27338287 2016
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
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 CausalMutation disease CLINVAR Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A. 26913189 2015
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