MTPAP, mitochondrial poly(A) polymerase, 55149

N. diseases: 104; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606900
rs267606900
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
CUI: C3150925
Disease:
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Defective mitochondrial mRNA maturation is associated with spastic ataxia. 20970105 2010
dbSNP: rs267606900
rs267606900
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
CUI: C3150925
Disease:
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs111797426
rs111797426
Entrez Id: 55149;729668
Gene Symbol: MTPAP;GOLGA2P6
MTPAP;GOLGA2P6
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs267606900
rs267606900
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
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