rs267606900, MTPAP

N. diseases: 2
Disease: Neurodegenerative Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE Further, we propose the structural basis for the N478D mutation that drastically reduces the length of poly(A) tails on mitochondrial mRNAs in patients with spastic ataxia 4 (SPAX4), a severe and progressive neurodegenerative disease. 26319014 2015