WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		0.100 Biomarker phenotype HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		0.100 Biomarker phenotype HPO
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		0.100 Biomarker disease HPO
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease HPO
CUI: C0241224
Disease: Spinal cord lesion
Spinal cord lesion 		0.100 Biomarker phenotype HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.060 Biomarker disease BEFREE A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.060 Biomarker disease BEFREE These data imply a strumpellin loss-of-function pathogenesis in hereditary spastic paraplegia. 20833645 2010
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		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
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		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
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		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
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.060 GeneticVariation disease BEFREE Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 CausalMutation disease CLINVAR Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645 2010
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease CTD_human
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease GENOMICS_ENGLAND Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world. 29768361 2018
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 CausalMutation disease CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013