Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.410 Biomarker group GENOMICS_ENGLAND Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. 29327420 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.410 Biomarker group GENOMICS_ENGLAND Our data support a potentially causal link between SLC25A42 mutation and mitochondrial myopathy in humans. 26541337 2016
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.410 GeneticVariation group BEFREE Our data support a potentially causal link between SLC25A42 mutation and mitochondrial myopathy in humans. 26541337 2016
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.410 GeneticVariation group CLINVAR
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0041105
Disease: Trismus
Trismus 		0.100 GeneticVariation disease CLINVAR
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.100 GeneticVariation disease CLINVAR
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.100 Biomarker disease HPO
CUI: C0086769
Disease: Panic Attacks
Panic Attacks 		0.100 GeneticVariation disease CLINVAR
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		0.100 GeneticVariation disease CLINVAR
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature 		0.100 GeneticVariation group CLINVAR
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease CLINVAR
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		0.100 Biomarker phenotype HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation group CLINVAR
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO