|Disease Association||Defects in AMACR are the cause of AMACR deficiency (MIM:604489). It results in elevated concentrations of pristanic acid. It is associated with a form of adult onset sensory motor neuropathy.|
[PMID 19252927] Bladder cancer SNP panel predicts susceptibility and survival.
[PMID 20011102] Fine-scale variation and genetic determinants of alternative splicing across individuals.
[PMID 20445798] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
[PMID 20875727] Non-synonymous variants in the AMACR gene are associated with schizophrenia.
|qualified_impact||Insufficiently evaluated not reviewed|