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: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.050 GeneticVariation disease BEFREE We present a novel strumpellin alteration in a small family with clinically pure HSP. 25454649 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 AlteredExpression disease BEFREE We have previously shown that TCEB1, EIF3S3, KIAA0196 and RAD21 are amplified and overexpressed in prostate cancer and they are located in the 8q area. 18844214 2009
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 AlteredExpression disease BEFREE We have previously shown that TCEB1, EIF3S3, KIAA0196 and RAD21 are amplified and overexpressed in prostate cancer and they are located in the 8q area. 18844214 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.020 GeneticVariation disease BEFREE We have identified a mutation in KIAA0196 as the cause of the form of RSS characterised in our cohort. 24065355 2013
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.020 GeneticVariation disease BEFREE We have identified a mutation in KIAA0196 as the cause of the form of RSS characterised in our cohort. 24065355 2013
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 Biomarker disease BEFREE We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a Huntington's disease mouse model. 20833645 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.010 Biomarker disease BEFREE We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a Huntington's disease mouse model. 20833645 2010
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.110 Biomarker disease BEFREE We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a Huntington's disease mouse model. 20833645 2010
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.010 Biomarker disease BEFREE We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a Huntington's disease mouse model. 20833645 2010
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 Biomarker disease BEFREE We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a Huntington's disease mouse model. 20833645 2010
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 Biomarker group BEFREE We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a Huntington's disease mouse model. 20833645 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: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE Two genes from chromosomal region 8q24-RAD21 and KIAA0196-showed increased expression in clinical prostate carcinomas and were also amplified in 30-40% of xenografts and hormone-refractory tumors. 14603436 2004
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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE The rat TSC (rTSC) gene was analyzed directly for cosegregation with salt-sensitive hypertension in an F2 (Dahl S x Dahl R) rat population (n = 102) characterized for blood pressure by radiotelemetry. 11564973 2001
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.050 Biomarker disease BEFREE The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease 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
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 Biomarker disease BEFREE The data suggest that KIAA0196 and possibly RAD21 are putative target genes for the common amplification of 8q23-24 in prostate cancer. 14603436 2004
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 Biomarker disease BEFREE The data suggest that KIAA0196 and possibly RAD21 are putative target genes for the common amplification of 8q23-24 in prostate cancer. 14603436 2004
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). 30061306 2018
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.050 GeneticVariation disease BEFREE The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). 30061306 2018
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.010 GeneticVariation disease BEFREE The 4 known diseases were Opitz G/BBB syndrome caused by MID1 gene mutation, Loeys‑Dietz syndrome caused by TGFBR1 gene mutation, Ritscher‑Schinzel/3C syndrome caused by KIAA0196 gene mutation and CHARGE syndrome caused by CHD7 gene mutation. 30896870 2019
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. 27164712 2016