AMACR, alpha-methylacyl-CoA racemase, 23600

N. diseases: 179; N. variants: 9
Disease: Alpha-Methylacyl-CoA Racemase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		G 0.810 CausalMutation CLINVAR AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. 21576695 2011
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		G 0.810 CausalMutation CLINVAR Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. 20821052 2010
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		0.810 GeneticVariation BEFREE Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. 20821052 2010
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		G 0.810 CausalMutation CLINVAR Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. 18032455 2008
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		G 0.810 CausalMutation CLINVAR Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. 15249642 2004
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		G 0.810 CausalMutation CLINVAR Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. 12512044 2003
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		0.810 GeneticVariation UNIPROT Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. 10655068 2000
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C3280428
Disease:
Alpha-Methylacyl-CoA Racemase Deficiency 		G 0.810 CausalMutation CLINVAR Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. 10655068 2000