Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 Biomarker disease GENOMICS_ENGLAND Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 28733338 2017
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 GeneticVariation disease CLINVAR Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 28733338 2017
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 GeneticVariation disease UNIPROT Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 23404334 2013
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.600 CausalMutation disease CLINVAR
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.510 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 		0.510 GeneticVariation disease BEFREE We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome. 23404334 2013
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.510 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 28733338 2017
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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.100 GeneticVariation group GWASCAT Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		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: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO