| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone Dystrophy |
Cone Dystrophy |
BEFREE |
21405999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophies |
Cone-rod dystrophy |
BEFREE |
10430891, 21405999 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
BEFREE |
21405999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
31424985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic retinopathy |
Pubtator |
37318461 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
10694514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
21405999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
BEFREE |
25616661 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Myeloid Leukemia |
Myeloid Leukemia |
BEFREE |
10694514 |
|
★★★★★★☆☆☆☆ 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 |
| Reticulosarcoma |
Reticulosarcoma |
BEFREE |
10694514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
33812995 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal detachment |
Pubtator |
37761846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
BEFREE |
21405999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
BEFREE |
10507726, 16186331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
15452722, 15505030 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CTD_human_DG |
15452722 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
21405999 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| RETINITIS PIGMENTOSA 48 |
Retinitis Pigmentosa |
UNIPROT_DG |
15452722 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| RETINITIS PIGMENTOSA 48 |
Retinitis Pigmentosa |
BEFREE |
17379362 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| RETINITIS PIGMENTOSA 48 |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
21405999 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| RETINITIS PIGMENTOSA 48 |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
BEFREE |
21405999 |
|
★★★★★★☆☆☆☆ 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 |