Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 GeneticVariation disease BEFREE Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. 29735986 2018
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 GeneticVariation disease UNIPROT Novel UCHL1 mutations reveal new insights into ubiquitin processing. 28007905 2017
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 GeneticVariation disease UNIPROT Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 GermlineCausalMutation disease ORPHANET Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 Biomarker disease GENOMICS_ENGLAND Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 Biomarker disease GENOMICS_ENGLAND Intron-exon structure of ubiquitin c-terminal hydrolase-L1. 10048490 1998
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 Biomarker disease CTD_human
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 GeneticVariation disease CLINVAR
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
0.710 CausalMutation disease CLINVAR