|
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 |
| Cleft Lip With Or Without Cleft Palate |
Cleft lip with or without cleft palate |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Atherosclerosis |
Associate
|
24899613, 31631426 |
| Breast Neoplasms |
Associate
|
26881506, 31182685 |
| Calcinosis Cutis |
Associate
|
38191418 |
| Carcinoma Ductal |
Associate
|
31182685 |
| Carcinoma Hepatocellular |
Associate
|
14716821, 37903974 |
| Carcinoma Pancreatic Ductal |
Associate
|
35718340 |
| Carcinoma Renal Cell |
Associate
|
21483105 |
| Carcinoma Squamous Cell |
Associate
|
18461674 |
| Colorectal Neoplasms |
Associate
|
26872462 |
| DiGeorge Syndrome |
Associate
|
35657354 |
| Epstein Barr Virus Infections |
Associate
|
35657354 |
| Esophageal Neoplasms |
Associate
|
27577071 |
| Frontotemporal Dementia |
Stimulate
|
36890594 |
| Gastrointestinal Stromal Tumors |
Associate
|
32792357 |
| Glioblastoma |
Associate
|
23411595 |
| Glioma |
Associate
|
35592520 |
| Hematologic Neoplasms |
Associate
|
30194255 |
| Infections |
Associate
|
31537641 |
| Inflammation |
Associate
|
24899613, 29508025, 33800462, 36890594 |
| Kidney Neoplasms |
Associate
|
21483105, 37013511 |
| Leukemia |
Associate
|
18461674, 19759901, 34290907 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
18945750 |
| Leukemia Myeloid Acute |
Associate
|
30500073, 34290907 |
| Lung Neoplasms |
Associate
|
31625289 |
| Lymphoma Mantle Cell |
Associate
|
19477219 |
| Lymphoma T Cell |
Associate
|
34290907 |
| Lymphoma T Cell Cutaneous |
Associate
|
30194255 |
| Lymphoproliferative Disorders |
Associate
|
31537641 |
| Melanoma |
Associate
|
35894206 |
| Multiple Myeloma |
Associate
|
17309825 |
| Multiple Sclerosis |
Stimulate
|
16970683 |
| Neoplasm Metastasis |
Associate
|
36142828 |
| Neoplasms |
Associate
|
17309825, 18461674, 20519625, 22021067, 26872462, 27544999, 29508025, 30194255, 33800462, 36574092, 37013511, 38191418 |
| Neuroblastoma |
Associate
|
12771917 |
| Persistent Infection |
Associate
|
29093082 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
24428589 |
| Prostatic Neoplasms |
Associate
|
36142828, 36804121 |
| Smooth Muscle Tumor |
Associate
|
35657354 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
32548602 |
| Stomach Neoplasms |
Associate
|
16367923 |
| Stroke |
Associate
|
24899613 |
| Tuberculosis |
Associate
|
21747409 |
| Uterine Cervical Neoplasms |
Associate
|
35942212, 36110252 |
| Uveal melanoma |
Associate
|
38191418 |
|