| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Achromatopsia |
Achromatopsia |
BEFREE |
20706282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Achromatopsia |
Achromatopsia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
25347473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amaurosis hypertrichosis |
Amaurosis hypertrichosis |
Pubtator |
19200525, 21393841, 24194943, 27419834, 29322253, 29421294, 31347285, 32022389, 34875963, 35150469, 40232358 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amaurosis hypertrichosis |
Amaurosis-hypertrichosis syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
LHGDN |
19200525, 19200527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
Pubtator |
19200525, 19200527, 21393841, 24194943, 29421294 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
BEFREE |
19200527, 20706282, 24194943, 29421294 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
25347473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone Dystrophy |
Cone dystrophy |
Pubtator |
34875963 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone Dystrophy |
Cone Dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone rod dystrophy amelogenesis imperfecta |
Cone-rod dystrophy |
ORPHANET_DG |
19200525, 24194943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophies |
Cone-rod dystrophy |
BEFREE |
19200527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophies |
Cone-rod dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
BEFREE |
19200525, 19200527, 20706282, 29421294 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Diseases |
Dental Diseases |
BEFREE |
24194943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
BEFREE |
24194943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
27419834 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Jalili syndrome |
Jalili Syndrome |
BEFREE |
19200525, 19200527, 20706282, 21728811, 24194943, 27070327, 27419834, 28246031, 29322253, 29421294, 29421602, 31842432 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Jalili syndrome |
Jalili Syndrome |
ORPHANET_DG |
19200525, 24194943 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Jalili syndrome |
Jalili Syndrome |
UNIPROT_DG |
19200525, 19200527 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Jalili syndrome |
Jalili Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Jalili syndrome |
Jalili Syndrome |
GENOMICS_ENGLAND_DG |
27419834 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Jalili syndrome |
Jalili Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber Congenital Amaurosis |
Leber congenital amaurosis |
Pubtator |
29322253 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
BEFREE |
24339795 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25347473, 30670776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
25347473 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
Pubtator |
35567543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30755730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
BEFREE |
21728811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
BEFREE |
27419834 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
BEFREE |
19200527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
27419834 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |