CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.010 GeneticVariation phenotype BEFREE CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. 30572172 2019