|
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 |
Postmenopausal breast cancer, Breast cancer (estrogen-receptor negative) |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer, Breast cancer (early onset) |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Early onset colorectal cancer, Colorectal cancer (PheCode 153), ICD10 C18, C19, C20: colorectal cancer, Colorectal cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes or prostate cancer (pleiotropy) |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer (SNP x SNP interaction), Prostate cancer (late onset), Prostate cancer (early onset), Prostate cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
22848662, 32295536 |
| Adenoma |
Associate
|
18535017, 23677573, 27769063 |
| Adenoma |
Inhibit
|
30194776 |
| Breast Neoplasms |
Associate
|
24338422 |
| Calcinosis Cutis |
Associate
|
31398859 |
| Cap Myopathy |
Associate
|
22077888, 22234922 |
| Carcinogenesis |
Associate
|
33517887 |
| Carcinoma Hepatocellular |
Associate
|
18990762, 24030569, 31398859 |
| Carcinoma Non Small Cell Lung |
Associate
|
27249003 |
| Carcinoma Pancreatic Ductal |
Associate
|
36038677 |
| Carcinoma Small Cell |
Associate
|
27249003 |
| Colorectal Neoplasms |
Associate
|
17630503, 18372901, 18535017, 20659471, 22505654, 22848671, 23677573, 24528058, 24978480, 27249003, 27769063, 35893034, 40243746 |
| Diabetes Mellitus Type 2 |
Associate
|
35893034 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
27249003 |
| Esophageal Neoplasms |
Associate
|
18990762, 30972633, 32875717 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
21102338, 35982900 |
| Gastrointestinal Diseases |
Associate
|
27249003 |
| Hematologic Diseases |
Associate
|
27249003 |
| Kidney Failure Chronic |
Associate
|
22505654 |
| Lung Neoplasms |
Associate
|
18990762, 22848662, 27249003 |
| Neoplasms |
Associate
|
18535017, 18704501, 19562729, 20158306, 22505654, 24377597, 24815458, 27249003, 27689194, 31398859, 38012210, 40243746 |
| Neoplasms |
Stimulate
|
35982900, 36384673 |
| Ovarian Neoplasms |
Associate
|
20158306, 27249003 |
| Pancreatic Neoplasms |
Associate
|
33517887, 36038677, 38012210 |
| Pancreatic Neoplasms |
Stimulate
|
36384673 |
| Personality Disorders |
Associate
|
19562729, 21308149, 34012061 |
| Prostatic Hyperplasia |
Associate
|
23532531 |
| Prostatic Neoplasms |
Associate
|
17903305, 18248681, 18349290, 18704501, 18768513, 19528667, 19562729, 19602258, 20700145, 20717903, 20978189, 21308149, 21456070, 21538423, 21557270, 21756274, 22077888, 22234922, 23532531, 24224612, 24377597, 24815458, 26537068, 32295536, 33263645, 34012061, 35741800 View all (12 more) |
| Prostatitis |
Associate
|
18349290 |
| Stomach Neoplasms |
Associate
|
21102338, 24854447, 25046748, 27249003 |
| Urinary Bladder Neoplasms |
Associate
|
18990762, 21051319 |
| Uterine Cervical Neoplasms |
Associate
|
30018982, 33785400 |
|