| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29391579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyschondroplasias |
Dyschondroplasias |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
33726005 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
21858081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
29391579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melnick-Needles Syndrome |
Melnick-Needles Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
21858081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
21858081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis IV |
Mucopolysaccharidosis |
BEFREE |
11443194 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Epiphyseal Dysplasia |
Multiple Epiphyseal Dysplasia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis of hip |
Osteoarthritis Of Hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
11443194 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasias |
Pubtator |
11760838, 19002213, 20498720, 22563562, 31053099, 33726005 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
LHGDN |
12579492, 12650905, 15221797, 15952107, 18247296 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schwartz-Jampel Syndrome |
Schwartz-Jampel Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schwartz-Jampel Syndrome, Type 1 |
Chondrodystrophic myotonia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondyloepiphyseal Dysplasia |
Spondyloepiphyseal dysplasia |
BEFREE |
10999831, 11031107, 11349230, 11595175, 12361953, 12446987, 12650905, 12939648, 23876379, 24841781 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondyloepiphyseal Dysplasia |
Spondyloepiphyseal dysplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondyloepiphyseal Dysplasia |
Spondyloepiphyseal dysplasia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondyloepiphyseal Dysplasia |
Spondyloepiphyseal dysplasia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spondyloepiphyseal dysplasia tarda |
Spondyloepiphyseal Dysplasia Tarda |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
Spondyloenchondrodysplasia |
UNIPROT_DG |
10431248, 11349230, 11424925 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
Spondyloenchondrodysplasia |
BEFREE |
10999831, 11031107, 11252002, 11326333, 11349230, 11443194, 11595175, 11760838, 12361953, 12446987, 12650905, 12939648, 14755465, 19002213, 19766614, 21858081, 22563562, 23019651, 23656395, 23876379, 23898804, 24841781, 30647738, 31053099 View all (9 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
Spondyloenchondrodysplasia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
Spondyloenchondrodysplasia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
Spondyloenchondrodysplasia |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spondyloepiphyseal dysplasia, congenita |
Spondyloepiphyseal dysplasia congenita |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Van Buchem disease |
Van Buchem Disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |