SSR4, signal sequence receptor subunit 4, 6748

N. diseases: 32; N. variants: 5
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
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.100 Biomarker group HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO