Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		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
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 GeneticVariation disease UNIPROT Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 GermlineCausalMutation disease ORPHANET Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 Biomarker disease CTD_human
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease BEFREE Meta-analysis of this population of Indo-European and Dravidian ancestry identified three strongly associated variants with schizophrenia: STT3A (rs548181, p=1.47×10(-5)), NRG1 (rs17603876, p=8.66×10(-5)) and GRM7 (rs3864075, p=4.06×10(-3)). 25579050 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASCAT Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.110 GeneticVariation disease GWASDB Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease GWASDB Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO