| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adamantinous Craniopharyngioma |
Adamantinous Craniopharyngioma |
BEFREE |
30031876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
19068216 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 |
Combined Oxidative Phosphorylation Deficiency |
GENOMICS_ENGLAND_DG |
23814038 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 |
Combined Oxidative Phosphorylation Deficiency |
UNIPROT_DG |
23814038 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 |
Combined Oxidative Phosphorylation Deficiency |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Crohn Disease |
Crohn Disease |
GWASDB_DG |
18587394 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
19068216 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome c Oxidase Deficiency |
Cytochrome c oxidase deficiency |
Pubtator |
23814038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| FRIEDREICH ATAXIA 1 |
Friedreich Ataxia |
BEFREE |
17331979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37810780 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial complex I deficiency |
Mitochondrial complex deficiency |
Pubtator |
23814038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
23814038, 26342079 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Narcolepsy |
Narcolepsy |
GWASDB_DG |
19629137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
20398431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
21968932, 23069351 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
21968932 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
Lactic Acidosis |
ORPHANET_DG |
23814038 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
Lactic Acidosis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
19068216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |