| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acidosis Lactic |
Lactic acidosis |
Pubtator |
27483465, 30025539 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acyl-CoA dehydrogenase 9 deficiency |
Acyl CoA Dehydrogenase Deficiency |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of |
Acyl CoA Dehydrogenase Deficiency |
CLINGEN_DG |
12359260, 16020546, 16750164, 17564966, 20816094, 21057504, 22499348, 25721401, 26669660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of |
Acyl CoA Dehydrogenase Deficiency |
ORPHANET_DG |
17564966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of |
Acyl CoA Dehydrogenase Deficiency |
GENOMICS_ENGLAND_DG |
21057504, 27604308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of |
Acyl CoA Dehydrogenase Deficiency |
BEFREE |
25721401 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of |
Acyl CoA Dehydrogenase Deficiency |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomegaly |
Cardiomegaly |
Pubtator |
26669660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
17564966, 30025539, 37240454 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
26826406, 30025539, 31473688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
30025539 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
28529009 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
28529009 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
37388727 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure Acute |
Liver failure |
Pubtator |
27483465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure, Acute |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
37388727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial complex I deficiency |
Mitochondrial complex deficiency |
Pubtator |
23836383, 26669660, 27483465, 29348607 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
Mitochondrial Complex Deficiency |
GENOMICS_ENGLAND_DG |
17564966, 21057504, 25929793, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
Mitochondrial Complex Deficiency |
UNIPROT_DG |
17564966, 20816094, 20929961, 21057504, 22499348, 23836383, 23996478, 26741492 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
25326637, 25721401, 26669660, 28529009, 30025539 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
22231380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
26669660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
BEFREE |
23836383 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
Pubtator |
23836383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenias |
Myasthenia Gravis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
27438479 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
27233227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic atrophy |
Pubtator |
26669660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
23939409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular hypertrophy |
Ventricular hypertrophy |
BEFREE |
27233227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |