Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.710 GeneticVariation disease BEFREE Our report expands both the genotype and phenotype of STT3A-CDG; demonstrating, as in most types of CDG, that there are multiple disease-causing variants in STT3A. 30701557 2019
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.710 Biomarker disease GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.710 GeneticVariation disease UNIPROT Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.710 GermlineCausalMutation disease ORPHANET Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.710 Biomarker disease CTD_human
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
0.710 CausalMutation disease CLINVAR
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.010 Biomarker disease BEFREE Factor VIII and vWF deficiency in STT3A-CDG. 30701557 2019