|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Ehlers-Danlos Syndrome |
ehlers-danlos syndrome |
N/A |
N/A |
ClinVar |
| hypotonia |
Hypotonia |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Aortic Rupture |
Associate
|
31949249 |
| Colorectal Neoplasms |
Associate
|
35833665 |
| Developmental Disabilities |
Associate
|
31063316 |
| Ehlers Danlos Syndrome |
Associate
|
22265013, 31063316, 31482689, 37894834 |
| Ehlers Danlos syndrome type 6 |
Associate
|
22265013, 28617417, 31063316, 31288483, 31949249, 34504686, 37433679, 37894834 |
| Epiphyseal dysplasia multiple 1 |
Associate
|
24272907 |
| Foot Deformities |
Associate
|
31063316 |
| Fragile X Syndrome |
Associate
|
31063316 |
| Hearing Loss |
Associate
|
22265013, 28617417, 31063316, 31949249 |
| Hearing Loss Sensorineural |
Associate
|
22265013 |
| Joint Instability |
Associate
|
28617417, 31063316, 31949249 |
| Kyphoscoliosis 1 |
Associate
|
22265013, 28617417, 31063316, 31482689, 31949249 |
| Larsen Syndrome |
Associate
|
37433679 |
| Muscle Hypotonia |
Associate
|
31063316, 31949249 |
| Muscular Diseases |
Associate
|
22265013, 28617417, 31063316 |
| Neoplastic Syndromes Hereditary |
Associate
|
37433679 |
| Osteosarcoma |
Associate
|
29364473 |
| Ovarian Neoplasms |
Associate
|
27131312 |
| Skin Diseases |
Associate
|
28617417, 31949249 |
| Soft Tissue Injuries |
Associate
|
33579342 |
|