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: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 Biomarker disease CTD_human
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 GeneticVariation disease CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 GeneticVariation disease BEFREE A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 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
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 GermlineCausalMutation disease ORPHANET A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 CausalMutation disease CLINVAR Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		0.100 Biomarker disease HPO
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		0.100 Biomarker disease HPO
CUI: C4025876
Disease: Abnormality of the fontanelles or cranial sutures
Abnormality of the fontanelles or cranial sutures 		0.100 Biomarker disease HPO
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		0.100 Biomarker disease HPO
CUI: C0426816
Disease: Absence of rib
Absence of rib 		0.100 Biomarker phenotype HPO
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836 2014
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.100 Biomarker phenotype HPO
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		0.100 Biomarker phenotype HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.100 Biomarker disease HPO
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord 		0.010 GeneticVariation disease BEFREE Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied. 16143870 2005
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 Biomarker phenotype HPO