| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acidosis Lactic |
Lactic acidosis |
Pubtator |
34991560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
38029925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
23569218 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined Oxidative Phosphorylation Deficiency 1 |
Combined oxidative phosphorylation deficiency |
Pubtator |
38029925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 |
Combined Oxidative Phosphorylation Deficiency |
GENOMICS_ENGLAND_DG |
29576219 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 |
Combined Oxidative Phosphorylation Deficiency |
UNIPROT_DG |
29576219 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
29576219 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Developmental Disabilities |
Developmental disability |
Pubtator |
38029925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Neoplasms |
Gallbladder neoplasm |
Pubtator |
34991560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
29576219, 34991560, 38029925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
Pubtator |
29576219, 34991560, 38029925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
38029925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
29576219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
29576219, 34991560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
29576219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |