Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		0.100 Biomarker phenotype HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C0001122
Disease: Acidosis
Acidosis 		0.100 Biomarker phenotype HPO
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		0.020 GeneticVariation disease BEFREE Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A > G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case. 28083701 2017
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		0.020 Biomarker disease BEFREE Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. 20370797 2010
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.010 GeneticVariation disease BEFREE The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		0.100 Biomarker phenotype HPO
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		0.300 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		0.100 Biomarker phenotype HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 GeneticVariation phenotype BEFREE Siblings with the common myopathic ETFDH c.1130T>C mutation presented with a new phenotype dominated by chronic fatigue without apparent myopathy. 31331668 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.300 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 Biomarker phenotype HPO
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		0.100 Biomarker phenotype HPO
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
GLUTARIC ACIDEMIA IIC 		0.400 CausalMutation disease CLINVAR
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
GLUTARIC ACIDEMIA IIC 		0.400 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
GLUTARIC ACIDEMIA IIC 		0.400 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
GLUTARIC ACIDEMIA IIC 		0.400 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4016438
Disease: GLUTARIC ACIDEMIA IIC, LATE-ONSET
GLUTARIC ACIDEMIA IIC, LATE-ONSET 		0.100 CausalMutation disease CLINVAR