| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Corneal dystrophy |
Corneal Dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
34089229, 34162742 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
34162742 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
CTD_human_DG |
19233941 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of liver |
Liver Cancer |
CTD_human_DG |
19233941 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
BEFREE |
31768969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
36861343 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature aging syndrome |
Premature aging |
BEFREE |
26843489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
26843489, 31768969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
34089229, 34162742 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ 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 |
| SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome(SHRF) |
ORPHANET_DG |
26843489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome(SHRF) |
UNIPROT_DG |
26843489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome(SHRF) |
BEFREE |
31628467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome(SHRF) |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
34719665 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |