| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinesia Familial with Facial Myokymia |
Dyskinesia, familial, with facial myokymia |
Pubtator |
28475863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| JOINT LAXITY, SHORT STATURE, AND MYOPIA |
JOINT LAXITY, SHORT STATURE, AND MYOPIA |
ORPHANET_DG |
28475863 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| JOINT LAXITY, SHORT STATURE, AND MYOPIA |
JOINT LAXITY, SHORT STATURE, AND MYOPIA |
GENOMICS_ENGLAND_DG |
28475863 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| JOINT LAXITY, SHORT STATURE, AND MYOPIA |
JOINT LAXITY, SHORT STATURE, AND MYOPIA |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Larsen syndrome |
Larsen Syndrome |
BEFREE |
28475863 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Larsen syndrome |
Larsen Syndrome |
GENOMICS_ENGLAND_DG |
28475863 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Larsen Syndrome |
Larsen syndrome |
Pubtator |
28475863 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Myopia |
Myopia |
Pubtator |
28475863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal detachment |
Pubtator |
28475863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
BEFREE |
28475863 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia-generalized joint laxity-short stature syndrome |
Myopia-Joint Laxity-Short Stature Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |