Gene: WASHC5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.060 GeneticVariation disease BEFREE We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia. 26967522 2016
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.060 GeneticVariation disease BEFREE The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. 26572744 2015
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.060 Biomarker disease BEFREE 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 		0.060 Biomarker disease BEFREE These data imply a strumpellin loss-of-function pathogenesis in hereditary spastic paraplegia. 20833645 2010
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.060 GeneticVariation disease BEFREE One of the retromer-interacting proteins, strumpellin, is mutated in hereditary spastic paraplegia, a progressive length-dependent axonopathy. 20923837 2010
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.060 GeneticVariation disease BEFREE Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007