Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 Biomarker disease GENOMICS_ENGLAND MGAT2 deficiency (CDG-IIa): the Life of J. 19419693 2009
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 GeneticVariation disease BEFREE However, crossing the Mgat2 mutation into a distinct genetic background resulted in a low frequency of survivors exhibiting additional and novel disease signs of CDG-IIa. 12417412 2002
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 Biomarker disease MGD Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. 11805078 2001
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 GeneticVariation disease UNIPROT Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. 11228641 2000
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 GeneticVariation disease UNIPROT Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. 8808595 1996
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. 8808595 1996
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 GeneticVariation disease BEFREE Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. 8808595 1996
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 Biomarker disease CTD_human
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 CausalMutation disease CLINVAR
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.300 Biomarker disease CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO