Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.600 GeneticVariation disease UNIPROT Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.600 Biomarker disease GENOMICS_ENGLAND A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. 12684507 2003
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.600 Biomarker disease GENOMICS_ENGLAND A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. 12684507 2003
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.600 Biomarker disease CTD_human
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.600 CausalMutation disease CLINVAR
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.600 CausalMutation disease CLINVAR
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 GeneticVariation disease BEFREE Inherited causes include myopathies related to mutations in BIN1, DES, DNM2, GMPPB, MTM1, or PLEC and congenital myasthenic syndromes due to mutations in ALG2, ALG14, COL13A1, DOK7, DPAGT1, or GFPT1. 31449669 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 GeneticVariation disease BEFREE Identification of DPAGT1, ALG14 and ALG2 mutations as a cause of congenital myasthenic syndrome underscores the importance of asparagine-linked protein glycosylation for proper functioning of the neuromuscular junction. 23404334 2013
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 Biomarker disease GENOMICS_ENGLAND Identification of DPAGT1, ALG14 and ALG2 mutations as a cause of congenital myasthenic syndrome underscores the importance of asparagine-linked protein glycosylation for proper functioning of the neuromuscular junction. 23404334 2013
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 Biomarker disease CTD_human
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.300 Biomarker disease CTD_human
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.300 Biomarker disease CTD_human
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		0.300 Biomarker disease CTD_human
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO