WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Disease: 3C syndrome ×
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 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: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 Biomarker disease CTD_human