| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Atrophoderma maculatum |
Anetoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
28259048 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
30827132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
31425546 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
30827132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
30827132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
30827132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
BEFREE |
30360666 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary retinal dystrophy |
Hereditary Retinal Dystrophy |
CLINGEN_DG |
23849777, 27790702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin disease |
Pubtator |
11222720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left Ventricular Hypertrophy |
Left Ventricular Hypertrophy |
BEFREE |
30827132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
21833473, 22532868, 22745590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30258285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25590614, 26909566, 29230817, 31606205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
17911266, 19091858, 19144710, 22102884, 22431062, 24161012, 24289555, 24532457, 25691053, 26135619, 26701721, 26909566, 27179594, 28243335, 28515295, 29617291, 29971780, 30548946, 30557400, 30684592, 31606205 View all (6 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
17911266, 20862214, 27147748, 28515295 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Neoplasms |
Nasopharyngeal carcinoma |
Pubtator |
37495108 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
17079300, 19091858, 21901094, 25590614, 25691053, 26135619, 26694854, 28259048, 28542273 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Niemann-Pick Disease, Type C |
Niemann-Pick Disease |
BEFREE |
29617291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
21833473, 22532868, 22745590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
21665939, 22745590 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
30210231 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
23849777, 29718757, 30945270 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
ORPHANET_DG |
23849777 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
30210231 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS |
Retinitis Pigmentosa With Or Without Situs Inversus |
UNIPROT_DG |
23849777, 27790702 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS |
Retinitis Pigmentosa With Or Without Situs Inversus |
CLINGEN_DG |
23849777, 27790702 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS |
Retinitis Pigmentosa With Or Without Situs Inversus |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS |
Retinitis Pigmentosa With Or Without Situs Inversus |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS |
Retinitis Pigmentosa With Or Without Situs Inversus |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
BEFREE |
27790702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
21880309, 30258285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |