|
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 |
| Autoinflammatory Disease |
Autoinflammatory syndrome |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Airway Remodeling |
Associate
|
37165378 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
17785771, 21342435, 29599780 |
| Epileptic Syndromes |
Associate
|
32076423 |
| Hematologic Diseases |
Associate
|
31562900 |
| Hemophagocytic lymphohistiocytosis familial 4 |
Associate
|
17525286, 19967551, 24227526, 24910990, 31770233 |
| Hemophagocytic Lymphohistiocytosis Familial 5 |
Associate
|
19804848 |
| Hemophagocytic Lymphohistiocytosis Familial 5 |
Inhibit
|
22791290 |
| Hemorrhage |
Associate
|
28399723 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
33672678 |
| Immunologic Deficiency Syndromes |
Associate
|
26771955, 31562900 |
| Infections |
Associate
|
36728431 |
| Leukemia Lymphoid |
Associate
|
29599780 |
| Leukemia Myeloid Acute |
Associate
|
16582076, 26646725 |
| Lymphohistiocytosis Hemophagocytic |
Associate
|
16582076, 17785771, 18547321, 18710388, 19884660, 19967551, 21342435, 21370424, 21931115, 22796692, 23287865, 24524345, 24916509, 25233452, 26176172, 26709266, 26771955, 27209435, 28270454, 28399723, 28468610, 29146706, 29157204, 29599780, 29649976, 29783935, 31562900, 31770233, 32076423, 32542393, 33746956 View all (16 more) |
| Lymphohistiocytosis Hemophagocytic |
Stimulate
|
19804848 |
| Lymphoma T Cell Peripheral |
Associate
|
26176172 |
| Macrophage Activation Syndrome |
Associate
|
36016321 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate
|
29146706 |
| Myelodysplastic Syndromes |
Associate
|
16582076 |
| Neoplasms |
Associate
|
16582076, 17785771 |
| Neoplasms |
Inhibit
|
26176172 |
| Primary Immunodeficiency Diseases |
Associate
|
38644452 |
| Psychomotor Disorders |
Associate
|
16582076 |
| Spinal Cord Diseases |
Associate
|
29146706 |
|