UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.110 GeneticVariation disease BEFREE Spastic Paraplegia-79 (SPG79) is an autosomal recessive type of childhood onset complicated by hereditary spastic paraplegia. 29735986 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.110 Biomarker disease HPO