| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acidosis Lactic |
Lactic acidosis |
Pubtator |
26189817 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain atrophy |
Brain atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
36632750 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36632750 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
26189817 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
35109800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined oxidative phosphorylation defect type 26 |
Combined Oxidative Phosphorylation Deficiency |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 |
Combined Oxidative Phosphorylation Deficiency |
UNIPROT_DG |
26189817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 |
Combined Oxidative Phosphorylation Deficiency |
ORPHANET_DG |
26189817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 |
Combined Oxidative Phosphorylation Deficiency |
GENOMICS_ENGLAND_DG |
26189817, 29021354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 |
Combined Oxidative Phosphorylation Deficiency |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
33398350 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
26189817 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Respiratory Chain Deficiencies |
Mitochondrial Respiratory Chain Deficiencies |
BEFREE |
26189817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |