| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
31582380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
GWASCAT_DG |
30306274 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
30339249 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Ganglia Diseases |
Basal Ganglia Diseases |
BEFREE |
26783368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35538029 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
26783368, 30581454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 |
Encephalopathy |
ORPHANET_DG |
22499341, 26783368 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 |
Encephalopathy |
GENOMICS_ENGLAND_DG |
22499341, 27604308 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 |
Encephalopathy |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 |
Encephalopathy |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
30581454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| External Ophthalmoplegia |
External Ophthalmoplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypoxia |
Hypoxia |
Pubtator |
35042949 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron Overload |
BEFREE |
29725013 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
29496454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
35042949 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31542392, 31582380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
Encephalopathy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
22878233 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
30581454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
29725013 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
29725013 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
CTD_human_DG |
23867156 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neoplasms |
Neoplasms |
BEFREE |
31582380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
26008206 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
31582380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
BEFREE |
28131082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy 1 |
Optic Atrophy |
BEFREE |
28683400, 29993201, 31032918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
37291333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
26783368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
26783368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Arterial Hypertension |
Pulmonary arterial hypertension |
Pubtator |
35042949 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
38110986 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sjogren's Syndrome |
Sjogren syndrome |
Pubtator |
35359935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
22878233 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
24176854, 29725013 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
25912308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
33763168 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |