| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acidosis Lactic |
Lactic acidosis |
Pubtator |
24014394 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
24014394, 26912632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
38291374 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
24014394, 26912632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exotropia |
Exotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| External Ophthalmoplegia |
External Ophthalmoplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
24014394 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
Pubtator |
38035073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated complex III deficiency |
Isolated Complex III Deficiency |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
BEFREE |
26912632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Complex III Deficiency |
Mitochondrial complex deficiency |
Pubtator |
24014394, 26912632, 27151179 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) |
Mitochondrial Complex Deficiency |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 |
Mitochondrial Complex Deficiency |
UNIPROT_DG |
24014394 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 |
Mitochondrial Complex Deficiency |
GENOMICS_ENGLAND_DG |
26912632, 27151179, 27564080, 28694194, 29353736 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
28694194 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial encephalopathy |
Mitochondrial encephalopathy |
BEFREE |
24014394 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial encephalopathy |
Mitochondrial encephalopathy |
Pubtator |
24014394 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
26912632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic tetraparesis |
Spastic tetraparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |