| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
25429138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
26233433 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24914616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
32311840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
26200272, 31492158 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
26200272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Classical galactosemia |
Galactosemia |
BEFREE |
27466186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Fibrosis of the Extraocular Muscles |
Congenital fibrosis of extraocular muscles |
BEFREE |
24656932 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
28760552 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cortical Dysplasia |
Cortical Dysplasia |
BEFREE |
9194902 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
31317654 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy Temporal Lobe |
Temporal lobe epilepsy |
Pubtator |
20411268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epiretinal Membrane |
Epiretinal Membrane |
BEFREE |
9418739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
35777956 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Galactosemias |
Galactosemia |
BEFREE |
27466186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
29136244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
29136244 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
BEFREE |
8456947 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
8456947 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypoxia-Ischemia, Brain |
Ischemic Encephalopathy |
BEFREE |
31580838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25902260, 30150678, 31317654 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
29738522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
Pubtator |
37965330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Neoplasms |
Liver neoplasm |
Pubtator |
35777956 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
BEFREE |
26200272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
26200272, 31492158, 36553576 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
26200272, 31492158 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
30214071 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Atrophy Spinal |
Spinal muscular atrophy |
Pubtator |
7825580, 8128967, 8449502 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
15759130, 26200272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
28074593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
18656471 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
18656471 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
31235589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
29716954 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
29716954 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
BEFREE |
29738522, 31317654 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
ORPHANET_DG |
29738522 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Periventricular Nodular Heterotopia |
Periventricular nodular heterotopia |
Pubtator |
29738522 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Periventricular nodular heterotopia |
Periventricular Nodular Heterotopia |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
36523600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
BEFREE |
29738522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proliferative vitreoretinopathy |
Proliferative Vitreoretinopathy |
BEFREE |
9418739 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
26200272 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
1961755 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
29925477 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophies of Childhood |
Spinal muscular atrophy |
Pubtator |
8449502 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophy |
Spinal Muscular Atrophy |
BEFREE |
1505990, 1881920, 7825580, 7912691, 7959774, 8012358, 8096827, 8128967, 8268730, 8432521, 8449502 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
30170380, 36474424, 36973787 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |