| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aqueductal Stenosis |
Aqueductal Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
36733406 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
26416026 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
34282052, 36599985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37528384 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
28691927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract Congenital Nuclear Autosomal Recessive 2 |
Congenital cataract |
Pubtator |
36599982 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
GENOMICS_ENGLAND_DG |
29597095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
37055577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
29983320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
30079490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
GENOMICS_ENGLAND_DG |
26416026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
29597095, 29983320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
35574843 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Galloway Mowat syndrome |
Galloway-Mowat Syndrome |
BEFREE |
30079490 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway Mowat syndrome |
Galloway-Mowat Syndrome |
ORPHANET_DG |
30079490 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway Mowat syndrome |
Galloway-mowat syndrome |
Pubtator |
30079490 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway-Mowat syndrome |
Galloway-Mowat Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Glioma |
Glioma |
Pubtator |
36733406 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycosuria Renal |
Renal glycosuria |
Pubtator |
30079490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
30079490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hiatal Hernia |
Hiatal Hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
26416026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
30079490 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
30079490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
BEFREE |
28691927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
34371184, 37821451 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
28691927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
28617965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
30079490, 36755238 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
28691927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
BEFREE |
30079490 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic syndrome |
Pubtator |
30079490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
37006267 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial agenesis of corpus callosum |
Partial Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary dwarfism 1 |
Pituitary dwarfism |
Pubtator |
26416026, 26429597 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PITUITARY DWARFISM I |
Pituitary dwarfism |
GENOMICS_ENGLAND_DG |
26416026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PITUITARY DWARFISM I |
Pituitary dwarfism |
BEFREE |
29597095, 29983320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proteinuria |
Proteinuria |
Pubtator |
30079490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
BEFREE |
26416026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
GENOMICS_ENGLAND_DG |
29597095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome 1 |
Seckel syndrome |
Pubtator |
26416026 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocythemia Essential |
Essential thrombocythemia |
Pubtator |
31289202 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocythemia, Essential |
Thrombocythemia |
BEFREE |
31289202 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |