SSR4, signal sequence receptor subunit 4, 6748

N. diseases: 32; N. variants: 5
Disease: Congenital disorder of glycosylation type 1y ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4012395
Disease: Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1y 		0.700 Biomarker disease GENOMICS_ENGLAND Expanding the Molecular and Clinical Phenotype of SSR4-CDG. 26264460 2015
CUI: C4012395
Disease: Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1y 		0.700 GermlineCausalMutation disease ORPHANET A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 24218363 2014
CUI: C4012395
Disease: Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1y 		0.700 CausalMutation disease CLINVAR A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 24218363 2014
CUI: C4012395
Disease: Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1y 		0.700 GeneticVariation disease CLINVAR A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 24218363 2014
CUI: C4012395
Disease: Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1y 		0.700 Biomarker disease GENOMICS_ENGLAND A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 24218363 2014
CUI: C4012395
Disease: Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1y 		0.700 Biomarker disease CTD_human