rs267606900, MTPAP

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Defective mitochondrial mRNA maturation is associated with spastic ataxia. 20970105 2010
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR
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