| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amelogenesis imperfecta nephrocalcinosis |
Amelogenesis Imperfecta |
BEFREE |
20558321, 22056721 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
29492846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
29492846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmias Cardiac |
Cardiac arrhythmias |
Pubtator |
22562657 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
BEFREE |
22562657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
22562657 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
GENOMICS_ENGLAND_DG |
27283775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome |
Brugada syndrome |
Pubtator |
20558321, 22056721, 22840528 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Brugada syndrome |
Brugada Syndrome |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Brugada Syndrome (disorder) |
Brugada Syndrome |
CLINGEN_DG |
11984590, 19120683, 20558321, 22056721, 22840528, 24367007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome (disorder) |
Brugada Syndrome |
BEFREE |
20558321, 22056721 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome (disorder) |
Brugada Syndrome |
ORPHANET_DG |
22056721 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome 1 |
Brugada Syndrome |
CLINGEN_DG |
11984590, 19120683, 20558321, 22056721, 22840528, 24367007 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Cantu syndrome |
Hypertrichotic osteochondrodysplasia |
BEFREE |
24176758, 24700710, 27247394, 29327300, 31175705, 31821173, 31828977 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cantu syndrome |
Hypertrichotic osteochondrodysplasia |
ORPHANET_DG |
24176758, 24700710 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cantu syndrome |
Hypertrichotic osteochondrodysplasia |
UNIPROT_DG |
24176758, 24700710, 28842488 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cantu syndrome |
Cantu syndrome |
Pubtator |
24176758, 24700710, 29327300, 31175705, 31828977, 32100467, 34056838, 37527933 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cantu syndrome |
Hypertrichotic osteochondrodysplasia |
CTD_human_DG |
28842488 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) |
Cardiac conduction disease |
CLINGEN_DG |
11984590, 19120683, 20558321, 22056721, 22840528, 24367007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomegaly |
Cardiomegaly |
Pubtator |
37527933 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
24339868 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
24339868 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
33686948 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Stenosis |
Carotid artery stenosis |
Pubtator |
33686948 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
33686948 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
19139106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Transient Neonatal 1 |
Diabetes mellitus transient neonatal |
Pubtator |
19139106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
19139106, 36097778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
26631031 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| First degree atrioventricular block |
Atrioventricular block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
37909603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichotic osteochondrodysplasia, Cantu type |
Hypertrichotic Osteochondrodysplasia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
21430528 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leiomyoma |
Leiomyoma |
Pubtator |
18569028 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphedema |
Lymphedema |
Pubtator |
37527933 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Ischemia |
Myocardial Ischemia |
CTD_human_DG |
16214533 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasopharyngeal Neoplasms |
Nasopharyngeal carcinoma |
Pubtator |
37538797 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
26631031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal ventricular tachycardia |
Paroxysmal ventricular tachycardia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Right bundle branch block |
Bundle Branch Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcopenia |
Sarcopenia |
Pubtator |
37909603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
21836131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sick Sinus Syndrome |
Sick Sinus Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sinus Node Dysfunction (disorder) |
Sinus Node Dysfunction |
CLINGEN_DG |
11984590, 19120683, 20558321, 22056721, 22840528, 24367007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Supraventricular tachycardia |
Supraventricular tachycardia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tachycardia, Ventricular |
Ventricular tachycardia |
GENOMICS_ENGLAND_DG |
27283775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trifascicular block |
Trifascicular block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
24176758 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Fibrillation |
Ventricular Fibrillation |
BEFREE |
19120683, 24176758 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ventricular Fibrillation |
Ventricular Fibrillation |
CTD_human_DG |
19120683 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ventricular Fibrillation |
Ventricular fibrillation |
Pubtator |
24176758 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ventricular Fibrillation |
Ventricular Fibrillation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
Ventricular Fibrillation |
BEFREE |
22825893 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |