Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Novel UCHL1 mutations reveal new insights into ubiquitin processing. 28007905 2017
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders. 26899237 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders. 26899237 2017