PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Fatal post-viral neurodegenerative disorder
0.300 GermlineCausalMutation disease ORPHANET Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 23443029 2013