| 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 |
| Amish Brittle Hair Brain Syndrome |
Amish Brittle Hair Brain Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchospasm |
Bronchospasm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
26880286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
26880286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clastothrix |
Clastothrix |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exfoliative erythroderma |
Congenital exfoliative erythroderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Enamel Hypoplasia |
Dental Enamel Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectropion |
Ectropion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
25290684 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gonadal Dysgenesis |
Gonadal Dysgenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
Pubtator |
30598092 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of mandible relative to maxilla |
Hypoplasia of mandible relative to maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired social reciprocity |
Impaired social reciprocity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
15645389 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kaposi Sarcoma |
Kaposi Sarcoma |
BEFREE |
29499066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconjunctivitis Sicca |
Keratoconjunctivitis Sicca |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukomalacia, Periventricular |
Periventricular Leukomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosclerosis |
Osteosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia/paraparesis |
Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial agenesis of corpus callosum |
Partial Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary hypogonadism |
Hypogonadism |
BEFREE |
30598092 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricho-thiodystrophy disorder |
Trichothiodystrophy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichorrhexis nodosa syndrome |
Trichorrhexis Nodosa Syndrome |
UNIPROT_DG |
15645389 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichorrhexis nodosa syndrome |
Trichorrhexis Nodosa Syndrome |
GENOMICS_ENGLAND_DG |
21959366 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy |
Trichothiodystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
BEFREE |
15645389, 16977596, 25290684, 26518168, 26880286 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
Pubtator |
15645389, 26880286, 30580289, 30598092, 37800682 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy, Nonphotosensitive 1 |
Trichothiodystrophy |
CLINVAR_DG |
26880286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichothiodystrophy, Nonphotosensitive 1 |
Trichothiodystrophy |
BEFREE |
30598092 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichothiodystrophy, Nonphotosensitive 1 |
Trichothiodystrophy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |