PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 23443029 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO