Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1
0.110 GeneticVariation disease BEFREE Here we characterize three independent fibroblast lines derived from skin biopsies of patients harbouring nonsense mutations in AP5Z1 and presenting with spastic paraplegia accompanied by neuropathy, parkinsonism and/or cognitive impairment. 26085577 2015
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1
0.110 Biomarker disease HPO