|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Cholangiocarcinoma |
Extrahepatic cholangiocarcinoma |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Frontal Fibrosing Alopecia |
Frontal fibrosing alopecia |
N/A |
N/A |
GWAS |
| Mental Depression |
Major depressive disorder |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
21143918 |
| Albuminuria |
Associate
|
37872228 |
| Amyotrophic Lateral Sclerosis |
Inhibit
|
36494423 |
| Aneuploidy |
Associate
|
18711181 |
| Astrocytoma |
Associate
|
31381204 |
| Breast Neoplasms |
Associate
|
18628953 |
| Cap Myopathy |
Associate
|
17259299 |
| Carcinogenesis |
Associate
|
12947087, 25866208 |
| Carcinoma Hepatocellular |
Associate
|
34286514, 36109787 |
| Carcinoma Squamous Cell |
Associate
|
28211524 |
| Colorectal Neoplasms |
Associate
|
30224643, 33174020, 35860243 |
| Death |
Associate
|
18711181 |
| Desmoplastic Small Round Cell Tumor |
Associate
|
28233365 |
| Disease |
Stimulate
|
38017230 |
| Gastrointestinal Stromal Tumors |
Associate
|
23969726, 23977394, 24737027, 29245294, 30557328, 31381204, 32901065, 36241703 |
| Glioblastoma |
Associate
|
31381204, 33470396 |
| Glioma |
Associate
|
28912153, 31862871 |
| Hemangiosarcoma |
Associate
|
28233365 |
| Liposarcoma Myxoid |
Associate
|
27790742 |
| Lymphoma Follicular |
Associate
|
23775959 |
| Lymphoma Primary Effusion |
Associate
|
21685375 |
| Melanoma |
Associate
|
21087211, 24737027, 26158900 |
| Mesothelioma |
Associate
|
23626673 |
| Mesothelioma Malignant |
Associate
|
23626673 |
| Neoplasm Metastasis |
Associate
|
26158900, 33918387 |
| Neoplasm Metastasis |
Stimulate
|
36109787 |
| Neoplasms |
Associate
|
12917345, 14673140, 17690209, 20104229, 20616363, 21036922, 21087211, 21685375, 21689625, 22904677, 23284306, 24157551, 24737027, 26238631, 26544944, 28186998, 28341589, 30224643, 30307468, 31381204, 35860243, 36383412 View all (7 more) |
| Oligodendroglioma |
Associate
|
31381204 |
| Pheochromocytoma |
Associate
|
20534969 |
| Prostate Cancer Hereditary 7 |
Associate
|
25595908 |
| Prostatic Intraepithelial Neoplasia |
Associate
|
23076342 |
| Prostatic Neoplasms |
Associate
|
17059688, 17259299, 17334343, 17634427, 18483239, 18594527, 18711181, 18794152, 19293179, 20104229, 20693979, 20975660, 21298110, 21703393, 23076342, 23244085, 23774214, 23814484, 24737027, 25203299, 25544710, 25595908, 28157714, 28553168, 30307468, 31376196, 31381204, 36383412, 37960954, 38017230 View all (15 more) |
| Prostatitis |
Associate
|
17634427, 19465903, 22904677, 23774214, 23814484, 36125519 |
| Rh Null Regulator Type |
Associate
|
25866208 |
| Sarcoma |
Associate
|
27790742 |
| Sarcoma Ewing |
Associate
|
12186432, 12736494, 17334332, 17620387, 18310898, 24737027, 31381204, 32362012, 9738976 |
| Sarcoma Small Cell |
Associate
|
17690209 |
| Skin Neoplasms |
Associate
|
28211524 |
| Stomach Neoplasms |
Associate
|
21673681 |
| Triple Negative Breast Neoplasms |
Associate
|
25884720 |
|