| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adult-onset foveomacular vitelliform dystrophy |
Foveomacular Vitelliform Dystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Adult-Onset Vitelliform Macular Dystrophy |
Vitelliform Macular Dystrophy |
ORPHANET_DG |
25085631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult-Onset Vitelliform Macular Dystrophy |
Vitelliform Macular Dystrophy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
11726612 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chorioretinal atrophy |
Chorioretinal atrophy |
BEFREE |
24876279 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Crohn Disease |
Crohn Disease |
GWASCAT_DG |
28067908 |
|
★★★★★★☆☆☆☆ 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 |
|
|
★★★★★★☆☆☆☆ 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 |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
GWASCAT_DG |
28067908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile-Onset Vitelliform Macular Dystrophy |
Vitelliform Macular Dystrophy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
BEFREE |
11726612 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular dystrophy |
Macular dystrophy |
CLINVAR_DG |
30718709 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MACULAR DYSTROPHY, VITELLIFORM, 5 |
Macular dystrophy, vitelliform |
UNIPROT_DG |
20673862, 25085631, 28644393 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MACULAR DYSTROPHY, VITELLIFORM, 5 |
Macular dystrophy, vitelliform |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MACULAR DYSTROPHY, VITELLIFORM, 5 |
Macular dystrophy, vitelliform |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 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 |
| Pigmentation Disorders |
Pigmentation Disorders |
BEFREE |
24876279 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posterior subcapsular cataract |
Capsular cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
BEFREE |
11726612 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
24876279 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
20673862 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal nonattachment |
Retinal nonattachment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
20673862, 24876279 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
24339724, 24876279 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 56 |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 56 |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 56 |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 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 |
| Sveinsson Chorioretinal Atrophy |
Sveinsson chorioretinal atrophy |
Pubtator |
24876279 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
24876279, 35608844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitelliform Macular Dystrophy |
Vitelliform Macular Dystrophy |
BEFREE |
25085631 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitelliform Macular Dystrophy |
Vitelliform macular dystrophy |
Pubtator |
35608844, 35900727 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitelliform Macular Dystrophy |
Vitelliform Macular Dystrophy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |