Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649

2014
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105

2013
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931

2013
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation UNIPROT The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. 23085491

2013
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645

2010
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation UNIPROT Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902

2007