| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adult Fanconi syndrome |
Fanconi syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
1672728, 8100139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
11013136, 19295170 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency |
Cardioencephalomyopathy |
ORPHANET_DG |
11013136, 19295170, 23878101 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
25792727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
28330871 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
19295170 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome c Oxidase Deficiency |
Cytochrome c oxidase deficiency |
Pubtator |
11013136 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
BEFREE |
11013136, 11027508, 20864674, 23878101 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
UNIPROT_DG |
11013136, 17182746, 17189203, 19336478 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
GENOMICS_ENGLAND_DG |
15023375, 19353847 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cytochrome-c Oxidase Deficiency |
Cytochrome-C Oxidase Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
1672728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
28647369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Electron Transport Chain Deficiencies, Mitochondrial |
Mitochondrial Electron Transport Chain Deficiencies |
CTD_human_DG |
17182746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
11013136, 23878101, 31352446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
CTD_human_DG |
23345593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatal infantile cytochrome C oxidase deficiency |
Fatal Cytochrome C Oxidase Deficiency |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioblastoma |
Glioblastoma |
BEFREE |
20683904 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
20683904 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart Diseases |
CTD_human_DG |
23345593 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
19295170, 23878101, 28973536 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
19295170, 23878101, 28973536 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocupremia |
Hypocupremia |
BEFREE |
28647369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
BEFREE |
11013136, 11579424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
Pubtator |
11013136 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure, Acute |
Liver failure |
CTD_human_DG |
20864674 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
1672728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
CTD_human_DG |
17182746 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
20864674, 31352446 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Respiratory Chain Deficiencies |
Mitochondrial Respiratory Chain Deficiencies |
CTD_human_DG |
17182746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenia Gravis |
Myasthenia Gravis |
BEFREE |
1672728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oxidative Phosphorylation Deficiencies |
Oxidative Phosphorylation Deficiency |
CTD_human_DG |
17182746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phosphate Diabetes |
Phosphate Diabetes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Arterial Hypertension |
Pulmonary arterial hypertension |
Pubtator |
39324181 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal tubular disorder |
Renal Tubular Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar Ataxias |
Spinocerebellar ataxia |
Pubtator |
19295170 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |