|
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 |
| spinocerebellar ataxia, x-linked |
Spinocerebellar ataxia, X-linked |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma Clear Cell |
Associate
|
37697729 |
| Adenoma |
Associate
|
26414517 |
| Biliary Atresia |
Associate
|
34750413 |
| Bone Diseases Developmental |
Associate
|
19757195 |
| Breast Neoplasms |
Associate
|
28590426 |
| Colorectal Neoplasms |
Associate
|
20696052, 26071483, 28551381, 28675510, 31243121, 37146911 |
| Down Syndrome |
Associate
|
28590426 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
22215675 |
| Hydrops Fetalis |
Associate
|
33686258 |
| Immunologic Deficiency Syndromes |
Associate
|
35460607 |
| Learning Disabilities |
Associate
|
32879452 |
| Lung Neoplasms |
Associate
|
34791810 |
| Microsatellite Instability |
Associate
|
20696052 |
| Musculoskeletal Diseases |
Associate
|
33686258 |
| Neoplasms |
Associate
|
17292822, 18311776, 22470196 |
| Neoplasms |
Inhibit
|
19416806, 22215675, 22285752, 22949735, 28032309, 35129140 |
| Osteopathia striata cranial sclerosis |
Associate
|
20150574, 20209645, 32879452, 33265914, 34622833, 36581928 |
| Sclerosing bone dysplasia mental retardation |
Associate
|
20209645, 32879452 |
| Spinocerebellar Degenerations |
Associate
|
20696052 |
| Stomach Neoplasms |
Associate
|
28032309 |
| Triple Negative Breast Neoplasms |
Associate
|
28590426 |
| Tuberous Sclerosis |
Associate
|
20150574, 34622833 |
| Volvulus Of Midgut |
Associate
|
36581928 |
| Wilms Tumor |
Associate
|
17292822, 18311776, 19757195, 20332316, 20696052, 22285752, 22409817, 22470196, 22952427, 23333300, 26274016, 28825729, 30155617, 30543698, 30671724, 32879452 View all (1 more) |
| Wilms Tumor |
Inhibit
|
19416806, 22215675, 28032309 |
|