WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 GeneticVariation BEFREE Our data indicate that the SPG8-causing N471D mutation leads to a partial loss of Str function in the endolysosomal system. 30061306 2018
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 GeneticVariation UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 GeneticVariation UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 GeneticVariation UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 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
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 GeneticVariation UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645 2010
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.810 GeneticVariation UNIPROT Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
dbSNP: rs80338865
rs80338865
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		C 0.810 CausalMutation CLINVAR
dbSNP: rs397515564
rs397515564
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
dbSNP: rs80338866
rs80338866
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
dbSNP: rs80338867
rs80338867
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
dbSNP: rs397515564
rs397515564
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
dbSNP: rs397515564
rs397515564
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
dbSNP: rs397515564
rs397515564
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 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
dbSNP: rs80338866
rs80338866
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 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
dbSNP: rs80338866
rs80338866
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
dbSNP: rs80338866
rs80338866
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
dbSNP: rs80338867
rs80338867
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
dbSNP: rs80338867
rs80338867
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
dbSNP: rs80338867
rs80338867
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 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
dbSNP: rs397515564
rs397515564
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645 2010
dbSNP: rs80338866
rs80338866
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645 2010
dbSNP: rs80338867
rs80338867
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645 2010
dbSNP: rs397515564
rs397515564
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
dbSNP: rs80338866
rs80338866
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C1863704
Disease:
Spastic paraplegia 8, autosomal dominant 		0.800 GeneticVariation UNIPROT Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007