Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT 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: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		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: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		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: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. 25920558

2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. 26084044

2015
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity. 23430512

2013
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. 23252888

2013
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease. 22613662

2012
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation 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
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT PAS-positive macrophages--not always infection. 21621718

2011
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. 20386867

2010
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. 19050888

2009
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation 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
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation 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
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Clinical findings in Niemann-Pick disease type B. 16472269

2006
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. 16010684

2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT 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
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. 12556236

2003
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 12369017

2002
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. 8664904

1996
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. 8051942

1994
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 1301192

1992
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation 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
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		0.800 GeneticVariation UNIPROT 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