|
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 |
| Breast Cancer |
Breast cancer (estrogen-receptor negative), Postmenopausal breast cancer |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer, Breast cancer (early onset) |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer, Colorectal cancer (PheCode 153), ICD10 C18, C19, C20: colorectal cancer, Early onset colorectal cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes or prostate cancer (pleiotropy) |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism, Hypothyroidism (PheCode 244) |
N/A |
N/A |
GWAS |
| Intracranial Aneurysm |
Intracranial aneurysm |
N/A |
N/A |
GWAS |
| Lymphocytic Leukemia |
Chronic lymphocytic leukemia |
N/A |
N/A |
GWAS |
| Multiple myeloma |
Multiple myeloma |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer (late onset), Prostate cancer, Prostate cancer (SNP x SNP interaction), Prostate cancer (early onset) |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
31464517 |
| Anemia Hemolytic |
Associate
|
24693973 |
| Bone Diseases |
Associate
|
34564896 |
| Cap Myopathy |
Associate
|
32059012 |
| Carcinogenesis |
Associate
|
35415876 |
| Carcinoma Hepatocellular |
Associate
|
26097602, 33829443 |
| Carcinoma Non Small Cell Lung |
Associate
|
31464517, 32114419, 35415876 |
| Carcinoma Squamous Cell |
Associate
|
31464517 |
| Colonic Neoplasms |
Associate
|
31694571 |
| Colorectal Neoplasms |
Associate
|
24204606, 30205577, 31253700, 31694571, 33094859, 33277833 |
| Colorectal Neoplasms |
Stimulate
|
31903119 |
| Endometrial Neoplasms |
Associate
|
31136293 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
25731728 |
| Leukemia |
Associate
|
2783862 |
| Leukemia Hairy Cell |
Associate
|
3871642 |
| Leukemia Large Granular Lymphocytic |
Associate
|
9488615 |
| Lung Neoplasms |
Associate
|
31464517 |
| Lymphatic Metastasis |
Stimulate
|
25731728, 28742205, 31136293 |
| Lymphoma B Cell |
Associate
|
2783862 |
| Lymphoma Large B Cell Diffuse |
Associate
|
33829443 |
| Monoclonal Gammopathy of Undetermined Significance |
Associate
|
2119828 |
| Multiple Myeloma |
Associate
|
10848782, 1830500, 28085010, 34564896 |
| Neoplasm Invasiveness |
Stimulate
|
31136293 |
| Neoplasm Metastasis |
Associate
|
26097602, 29687842, 31539121, 33277833 |
| Neoplasm Metastasis |
Stimulate
|
35415876 |
| Neoplasms |
Associate
|
2242429, 25425964, 25731728, 25933431, 28742205, 30205577, 31646554, 31694571, 31903119, 34997014 |
| Neoplasms |
Stimulate
|
31136293, 35415876, 40713711 |
| Non Muscle Invasive Bladder Neoplasms |
Stimulate
|
30268126 |
| Osteosarcoma |
Associate
|
33829438 |
| Ovarian Neoplasms |
Associate
|
31646554 |
| Pancreatic Neoplasms |
Associate
|
31539121 |
| Precancerous Conditions |
Associate
|
33829443 |
| Prostatic Neoplasms |
Associate
|
21804560, 25425964, 25731728, 25933431, 25934337, 26823525, 32059012, 32800727, 33596994, 36045292 |
| Prostatitis |
Associate
|
32680982 |
| Rectal Neoplasms |
Associate
|
31253700 |
| Small Cell Lung Carcinoma |
Associate
|
32114419 |
| Stomach Neoplasms |
Associate
|
28742205 |
| Thyroid Cancer Papillary |
Stimulate
|
40468332 |
| Thyroid Neoplasms |
Associate
|
40468332 |
| Urinary Bladder Neoplasms |
Stimulate
|
25934337 |
| Urinary Bladder Neoplasms |
Associate
|
30268126, 30467945 |
| Uterine Cervical Neoplasms |
Associate
|
29687842, 40713711 |
|