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 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 Growth restriction in children with type B Niemann-Pick disease. 12712061 2003
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 GeneticVariation disease CLINVAR Occurrence of two molecular forms of human acid sphingomyelinase. 8053910 1994
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 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 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 UNIPROT Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. 15221801 2004
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 GeneticVariation disease CLINVAR Preimplantation genetic diagnosis for Niemann-Pick disease type B. 15612058 2004
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 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 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 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 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 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 UNIPROT Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. 18815062 2008
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. 16642440 2006
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease UNIPROT Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 19405096 2009
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 BEFREE Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. 23356216 2013
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 CLINVAR Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 16434659 2006
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.800 GeneticVariation disease CLINVAR Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. 20386867 2010