Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 Biomarker 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 Biomarker 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 Biomarker 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 Biomarker 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 CausalMutation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation CLINVAR Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. 27238910

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 CausalMutation CLINVAR SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 Biomarker GENOMICS_ENGLAND SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation CLINVAR SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation UNIPROT SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 CausalMutation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation CLINVAR Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. 27725636

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 GeneticVariation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 CausalMutation 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
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		0.800 CausalMutation CLINVAR Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. 26084044

2015