| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Age related macular degeneration |
Age-related macular degeneration |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
GWASCAT_DG |
30306274 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
26487268 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ciliopathies |
Ciliopathy |
Pubtator |
29068549 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatic Fibrosis, Congenital |
Congenital Hepatic Fibrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Jeune thoracic dystrophy |
Jeune Thoracic Dystrophy |
CLINVAR_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Majewski Syndrome |
Majewski Syndrome |
ORPHANET_DG |
29068549 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Majewski Syndrome |
Majewski Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nephritis, Tubulointerstitial |
Nephritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephronophthisis |
Nephronophthisis |
BEFREE |
26487268 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephronophthisis |
Nephronophthisis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
32104517 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal dysplasia and retinal aplasia (disorder) |
Renal dysplasia and retinal aplasia |
ORPHANET_DG |
26487268 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Senior-Loken syndrome |
Senior-Loken Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SENIOR-LOKEN SYNDROME 9 |
Senior-Loken Syndrome |
UNIPROT_DG |
26487268 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SENIOR-LOKEN SYNDROME 9 |
Senior-Loken Syndrome |
GENOMICS_ENGLAND_DG |
26487268 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SENIOR-LOKEN SYNDROME 9 |
Senior-Loken Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Short rib-polydactyly syndrome, Majewski type |
Short Rib-Polydactyly Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |