|
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 |
| Mental Depression |
depressive disorder |
N/A |
N/A |
GenCC |
| neural tube defect |
Neural tube defect |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
27153549 |
| Arthritis Rheumatoid |
Associate
|
24920239 |
| Astrocytoma |
Associate
|
15367334 |
| Brain Neoplasms |
Associate
|
18093951 |
| Breast Neoplasms |
Inhibit
|
20829044 |
| Burkitt Lymphoma |
Associate
|
15692060 |
| Calcinosis Cutis |
Inhibit
|
15305193 |
| Carcinogenesis |
Associate
|
20977544 |
| Carcinoma Embryonal |
Inhibit
|
20977544 |
| Carcinoma Hepatocellular |
Associate
|
27342975, 31094091 |
| Carcinoma Non Small Cell Lung |
Associate
|
31329620 |
| Carcinoma Renal Cell |
Associate
|
17133271, 21922274 |
| Carcinoma Transitional Cell |
Associate
|
17133271, 17160380, 17541304 |
| Cerebral Infarction |
Associate
|
35432334 |
| Cleft Palate |
Associate
|
26743285 |
| Colonic Neoplasms |
Associate
|
21528061, 36866552 |
| Colonic Polyps |
Associate
|
26743285 |
| Colorectal Neoplasms |
Associate
|
22481083, 24992592, 28423356 |
| Crohn Disease |
Associate
|
12477763 |
| Diabetic Nephropathies |
Associate
|
27141571 |
| Glioblastoma |
Associate
|
14655749, 23822711 |
| Glioma |
Associate
|
11870542 |
| HIV Infections |
Stimulate
|
31779701 |
| Huntington Disease |
Stimulate
|
31329620 |
| Hypoxia |
Associate
|
19061491 |
| Hypoxia Brain |
Associate
|
31911497 |
| Iron Overload |
Stimulate
|
24142530 |
| Kashin Beck Disease |
Associate
|
22776318 |
| Laryngeal Neoplasms |
Associate
|
29503530 |
| Leukemia |
Associate
|
11435311, 11895790 |
| Leukemia Myeloid Acute |
Associate
|
15972851 |
| Lung Neoplasms |
Associate
|
28895780, 34308964 |
| Lymphatic Metastasis |
Associate
|
28453462 |
| Lymphoma B Cell |
Associate
|
15692060 |
| Lymphoma Large B Cell Diffuse |
Associate
|
27863378 |
| Melanoma |
Inhibit
|
15305193 |
| Melanoma |
Associate
|
19383853, 20216471, 20977544, 31329620, 36351409 |
| Melanoma Cutaneous Malignant |
Inhibit
|
15305193 |
| Mitochondrial Diseases |
Stimulate
|
12644018 |
| Mitochondrial Diseases |
Associate
|
24920239, 31541852 |
| Monoclonal Gammopathy of Undetermined Significance |
Associate
|
24816239 |
| Multiple Myeloma |
Associate
|
17557868, 24816239, 31918281 |
| Myelodysplastic Syndromes |
Associate
|
24142530 |
| Nasopharyngeal Carcinoma |
Associate
|
24845412, 31634779 |
| Neoplasms |
Associate
|
10722681, 11346470, 14655749, 16315248, 17133271, 17541304, 18093951, 19061491, 20572035, 20977544, 25064172, 29606096, 36142793, 36866552 |
| Neoplasms |
Inhibit
|
15972851, 17160380, 17557868, 20829044, 21922274, 23408418, 31094091, 36864125 |
| Neoplasms |
Stimulate
|
23613234 |
| Neoplasms Germ Cell and Embryonal |
Associate
|
20977544 |
| Neural Tube Defects |
Associate
|
29358613 |
| Nevus Pigmented |
Associate
|
12535197 |
| Ovarian Neoplasms |
Associate
|
11429402, 20925046 |
| Paraproteinemias |
Associate
|
24816239 |
| Parkinson Disease |
Stimulate
|
37108258 |
| Polyps |
Associate
|
26743285 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
27644318 |
| Prostatic Neoplasms |
Associate
|
33509203 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
38162988 |
| Rectal Neoplasms |
Associate
|
16315248 |
| Retinal Dysplasia |
Associate
|
26743285 |
| Seminoma |
Stimulate
|
20977544 |
| Solitary Fibrous Tumors |
Associate
|
34502329 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
17026852, 28453462 |
| Stomach Neoplasms |
Associate
|
17876870, 23326121, 32993565 |
| Teratoma |
Inhibit
|
20977544 |
| Testicular Germ Cell Tumor |
Associate
|
20977544 |
| Urinary Bladder Neoplasms |
Associate
|
17160380, 17541304, 23613234 |
|