ASAH1, N-acylsphingosine amidohydrolase 1, 427

N. diseases: 176; N. variants: 21
Disease: Farber Lipogranulomatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. 26945816 2016
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. 27411168 2016
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT A novel mutation in an atypical presentation of the rare infantile Farber disease. 21982811 2012
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system. 21893389 2012
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. 20609603 2011
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 16951918 2006
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease. 12638942 2002
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 11241842 2001
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT Human acid ceramidase gene: novel mutations in Farber disease. 10993717 2000
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 10610716 1999
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation UNIPROT A homoallelic point mutation (T222K) was also identified in the AC gene of a patient suffering from Farber disease, further confirming the authenticity of the full-length cDNA. 8955159 1996
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		0.810 GeneticVariation BEFREE A homoallelic point mutation (T222K) was also identified in the AC gene of a patient suffering from Farber disease, further confirming the authenticity of the full-length cDNA. 8955159 1996
dbSNP: rs137853593
rs137853593
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease:
Farber Lipogranulomatosis 		T 0.810 CausalMutation CLINVAR