rs267606900, MTPAP

N. diseases: 2
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE ×
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