WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Disease: RITSCHER-SCHINZEL SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 24916641 2015
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		0.400 CausalMutation disease CLINVAR