|
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 |
| Immunodeficiency |
immunodeficiency 80 with or without congenital cardiomyopathy |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Aortic Syndrome |
Associate
|
31721906 |
| Adenocarcinoma of Lung |
Associate
|
31323040 |
| Adenocarcinoma of Lung |
Stimulate
|
31545501 |
| Aortic Dissection |
Associate
|
31721906 |
| Breast Neoplasms |
Stimulate
|
31280346 |
| Breast Neoplasms |
Associate
|
31311202, 33340428, 35813483, 37592220 |
| Carcinogenesis |
Associate
|
24376576, 36233194, 37848534 |
| Carcinoma Hepatocellular |
Associate
|
29962817, 40255404 |
| Carcinoma Squamous Cell |
Stimulate
|
36445337 |
| Carcinoma Squamous Cell |
Associate
|
37746664 |
| Cardiomyopathies |
Associate
|
33712616 |
| Cardiomyopathy Restrictive |
Associate
|
33712616 |
| Cell Transformation Neoplastic |
Stimulate
|
35813483 |
| Colonic Neoplasms |
Associate
|
35392038 |
| Cytomegalovirus Infections |
Associate
|
32865517 |
| Endometrial Neoplasms |
Associate
|
37246638 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
24551190 |
| GATA2 Deficiency |
Associate
|
32865517, 33712616 |
| Glioblastoma |
Associate
|
39528802 |
| Immune System Diseases |
Associate
|
33712616 |
| Leiomyoma |
Associate
|
36948524 |
| Leukemia Large Granular Lymphocytic |
Associate
|
32865517 |
| Leukemia Myeloid Acute |
Associate
|
30480765 |
| Lung Neoplasms |
Associate
|
35360518 |
| Neoplasm Metastasis |
Stimulate
|
27780919 |
| Neoplasms |
Associate
|
22838965, 23874974, 25046975, 27780919, 30095171, 31280346, 33340428, 36948524, 37880798, 38305604 |
| Neoplasms |
Stimulate
|
35813483, 37848534 |
| Pancreatic Neoplasms |
Associate
|
27695057 |
| Polycystic Ovary Syndrome |
Associate
|
37132453 |
| Prostatic Neoplasms |
Stimulate
|
30095171 |
| Splenic Neoplasms |
Associate
|
33712616 |
| Stomach Neoplasms |
Associate
|
37860833 |
| Tertiary Lymphoid Structures |
Associate
|
31280346 |
| Urethral Neoplasms |
Stimulate
|
27780919 |
| Uterine Cervical Neoplasms |
Associate
|
23874974, 37746664 |
|