| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adrenal Hyperplasia Congenital |
Congenital adrenal hyperplasia |
Pubtator |
10207042 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy |
Atrophy |
Pubtator |
20625056, 37643038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
36035369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
Pubtator |
20625056, 28112135 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| 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 |
| CRANIOOSTEOARTHROPATHY |
Cranioosteoarthropathy |
BEFREE |
29378847 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
21738648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Emphysema |
Emphysema |
Pubtator |
16504044 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37602882 |
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 |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular dystrophy |
Macular dystrophy |
CLINVAR_DG |
18552978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
Pubtator |
10502575, 1357178, 17093403, 20625056, 37749571 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
BEFREE |
1357178 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A |
Night blindness |
BEFREE |
9418727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
BEFREE |
1357178 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
BEFREE |
11020419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
37602882 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
CTD_human_DG |
21411543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
36778142 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
23150612, 28444310, 29361551, 31079036, 32531192, 36672815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
15031171, 23150612, 28112135 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
10053026, 12657579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
10480356, 10634633, 16457815, 17093403, 27911705 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
LHGDN |
11798852, 11992260, 14566651, 17093403 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
17093403, 23150612, 23372056, 23484092, 23950152, 24940031, 28444310, 30280194, 30543658, 31079036, 32531192, 35814500, 37602882, 37977507, 38094283 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
30718709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa 2 |
Retinitis pigmentosa |
Pubtator |
10502575, 11992260, 1357178, 14564670, 15031171, 16902723, 17093403, 18588884, 1895315, 20625056, 2239970, 22619378, 23372056, 23443027, 25292197, 28112135, 28294154, 30917587, 31079036, 32531192, 37198560, 37643038, 38094283, 40119724, 8023838, 8938433, 9792872 View all (12 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 2 (disorder) |
Retinitis Pigmentosa |
CLINVAR_DG |
10090907, 15032968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 2 (disorder) |
Retinitis Pigmentosa |
UNIPROT_DG |
10090907, 10520237, 10634633, 10937588, 10942419, 11462235, 11847227, 11992260, 12657579, 14564670, 16472755, 22334370, 9697692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 2 (disorder) |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
21738648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 2 (disorder) |
Retinitis Pigmentosa |
BEFREE |
25078280, 26358772, 28209709, 28444310, 30280194 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 2 (disorder) |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINITIS PIGMENTOSA 3 |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sclerocystic Ovaries |
Sclerocystic Ovaries |
CTD_human_DG |
21411543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked retinitis pigmentosa |
Retinitis Pigmentosa, X-Linked |
BEFREE |
10634633, 10937588, 11020419, 11262649, 11465545, 11992260, 16457815, 19702441, 20021257, 23443027, 25078280, 27323122, 27768226, 28294154, 31071385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |