| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
31110225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
23055945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant neovascular inflammatory vitreoretinopathy |
Neovascular Inflammatory Vitreoretinopathy |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Blindness |
Blindness |
Pubtator |
25216694, 29040051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders Inherited |
Blood coagulation disorder |
Pubtator |
23055945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
17227582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
LHGDN |
17227582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
25856303 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29472286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
17227582, 24280871 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
16396936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic retinopathy |
Pubtator |
23055945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
BEFREE |
23055945, 25856303, 27152965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
18829447 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilic esophagitis |
Eosinophilia |
GWASCAT_DG |
25017104 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
BEFREE |
27152965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eye Diseases |
Eye disease |
Pubtator |
25856303 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
29472286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
16396936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Limb-girdle muscular dystrophy type 2A |
Limb-girdle muscular dystrophy |
BEFREE |
9771675 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
GWASDB_DG |
23555315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27152965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
BEFREE |
28193203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
17227582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19225898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
33811937 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29245980 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 2 |
Neurofibromatosis |
BEFREE |
28193203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
16396936, 17151322, 18657264 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
18657264 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral retinal neovascularization |
Peripheral retinal neovascularization |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS |
Pigmentary Disorder, Reticulate, With Systemic Manifestations |
BEFREE |
31110225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
16396936, 17227582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
LHGDN |
16396936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
17227582 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proliferative diabetic retinopathy |
Proliferative Diabetic Retinopathy |
BEFREE |
31110225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proliferative vitreoretinopathy |
Proliferative Vitreoretinopathy |
ORPHANET_DG |
23055945 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Proliferative vitreoretinopathy |
Proliferative Vitreoretinopathy |
UNIPROT_DG |
23055945 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Proliferative vitreoretinopathy |
Proliferative Vitreoretinopathy |
BEFREE |
31110225 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Proliferative vitreoretinopathy |
Proliferative Vitreoretinopathy |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Proliferative vitreoretinopathy |
Proliferative Vitreoretinopathy |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
25856303, 29472286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal Detachment |
BEFREE |
25856303 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal detachment |
Pubtator |
25856303 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal Detachment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
31968260 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
27152965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhegmatogenous retinal detachment |
Rhegmatogenous retinal detachment |
BEFREE |
31110225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
LHGDN |
18787380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis |
Uveitis |
Pubtator |
23055945, 25856303, 29472286, 32707200 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis |
Uveitis |
BEFREE |
25856303, 25994508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis |
Uveitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis Posterior |
Uveitis |
Pubtator |
25856303, 32707200 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
16415965 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitreoretinal degeneration |
Vitreoretinal degeneration |
BEFREE |
25856303, 31110225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitreoretinal degeneration |
Vitreoretinal degeneration |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitreoretinopathy Proliferative |
Vitreoretinopathy |
Pubtator |
25856303, 29472286, 30986125, 31110225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |