| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
31654185 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral congenital dislocation of hip |
Congenital Hip dislocation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37652516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
25167861, 28262662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
25167861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
28161704 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dent Disease |
Dent disease |
Pubtator |
30630535 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
26740508 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
25425167, 28262662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
30630535 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
16249884, 25425167, 28262662, 30630535 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
20613765 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23871722, 30630535 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Malignant neoplasm of breast |
Breast Cancer |
GWASDB_DG |
20852631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
16249884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
BEFREE |
16249884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
30630535 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
26740508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychomotor Disorders |
Psychiatric disorders |
Pubtator |
30630535 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett syndrome |
Pubtator |
26740508 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
26692240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stocco dos Santos syndrome |
Stocco Dos Santos Syndrome |
ORPHANET_DG |
16249884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stocco dos Santos syndrome |
Stocco Dos Santos Syndrome |
UNIPROT_DG |
16249884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stocco dos Santos syndrome |
Stocco Dos Santos Syndrome |
GENOMICS_ENGLAND_DG |
20613765 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stocco dos Santos syndrome |
Stocco Dos Santos Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stocco dos Santos syndrome |
Stocco Dos Santos Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
25425167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked intellectual disability, Stocco Dos Santos type |
Mental Retardation, X-Linked |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |