DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C3492932
Disease: Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency 		0.310 Biomarker disease CTD_human
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		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: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 Biomarker disease HPO