Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker disease CTD_human
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 CausalMutation disease CLINVAR
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.140 Biomarker phenotype HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.110 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 Biomarker phenotype HPO
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		0.100 Biomarker phenotype HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.100 Biomarker group HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C0149854
Disease: Cerebellar hemorrhage
Cerebellar hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		0.100 Biomarker phenotype HPO
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.100 Biomarker disease HPO
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.100 Biomarker phenotype HPO
CUI: C0231528
Disease: Myalgia
Myalgia 		0.100 Biomarker phenotype HPO
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.100 Biomarker phenotype HPO
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.100 Biomarker disease HPO
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		0.100 Biomarker phenotype HPO