LYST, lysosomal trafficking regulator, 1130

N. diseases: 114; N. variants: 18
Disease: Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 GeneticVariation disease BEFREE Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 24521565 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker disease GENOMICS_ENGLAND [Hereditary spastic paraplegia: up to date]. 25519960 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker disease GENOMICS_ENGLAND We also identified the mutation of the LYST gene, that is causative gene for Chediak-Higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy. 25519961 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker disease GENOMICS_ENGLAND We also identified the mutation of the LYST gene, that is causative gene for Chediak-Higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy. 25519961 2014