|
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 |
N/A |
N/A |
GWAS |
| Hyperthyroidism |
Hyperthyroidism |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abortion Habitual |
Associate
|
28980840 |
| Abortion Spontaneous |
Associate
|
28980840 |
| Adenocarcinoma |
Associate
|
29949537 |
| Arthritis |
Associate
|
27616146 |
| Arthritis Psoriatic |
Associate
|
27616146 |
| Arthritis Rheumatoid |
Associate
|
27616146 |
| Autism Spectrum Disorder |
Associate
|
18207134 |
| Breast Diseases |
Associate
|
18779591, 36445946 |
| Breast Neoplasms |
Associate
|
11680708, 12698200, 16103113, 18053149, 18246042, 18681966, 18779591, 19036881, 19276348, 20826546, 21470416, 21726627, 22606260, 23159947, 23192981, 24249584, 2448309, 26586670, 27564112, 28423697, 30987013, 34077462, 35739271, 3667631, 37244387, 40003884, 40157909, 40377604, 7534043, 7768908, 9653194, 9888458 View all (17 more) |
| Calcinosis Cutis |
Associate
|
21726627 |
| Carcinogenesis |
Associate
|
24990775 |
| Carcinoma Acinar Cell |
Associate
|
19633648 |
| Cardiac Output Low |
Associate
|
40157909 |
| Cell Transformation Neoplastic |
Associate
|
21816901, 33942735 |
| Colitis Ulcerative |
Associate
|
37443022 |
| Colorectal Neoplasms |
Associate
|
20453834 |
| Diabetes Gestational |
Associate
|
23651351 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
18681966 |
| Dysplastic Nevus Syndrome |
Associate
|
10079264 |
| Ehlers Danlos syndrome type 3 |
Associate
|
27518164 |
| Endometrial Neoplasms |
Associate
|
31389293 |
| Fibroadenoma |
Associate
|
18779591 |
| Glioblastoma |
Associate
|
27788487 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
21505459, 24249584 |
| Hyperaldosteronism |
Stimulate
|
26176803 |
| Hyperparathyroidism Primary |
Associate
|
22606260 |
| Hyperprolactinemia |
Associate
|
24195502, 36445946 |
| Inflammation |
Associate
|
27518164 |
| Mammary Neoplasms Animal |
Associate
|
15746191 |
| Mouth Neoplasms |
Associate
|
10079264 |
| Neoplasm Metastasis |
Associate
|
26586670 |
| Neoplasms |
Associate
|
19276348, 20453834, 21505459, 23159947, 24134847, 24249584, 24265293, 24990775, 32632335 |
| Neoplasms |
Stimulate
|
34358244 |
| Obesity |
Associate
|
31389293 |
| Ovarian Neoplasms |
Associate
|
34358244 |
| Pain |
Associate
|
27518164 |
| Parathyroid Neoplasms |
Associate
|
22606260 |
| Personality Disorders |
Associate
|
30987013 |
| Plaque Atherosclerotic |
Associate
|
27616146 |
| Polycystic Ovary Syndrome |
Associate
|
31389293, 39253602 |
| Prolactin Deficiency Isolated |
Associate
|
24195502 |
| Prolactinoma |
Associate
|
26176803, 30445560, 36445946 |
| Prostatic Neoplasms |
Associate
|
19739126, 33942735 |
| Prostatitis |
Associate
|
33942735 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
21505459 |
| Uterine Cervical Dysplasia |
Associate
|
24990775 |
| Uterine Cervical Neoplasms |
Stimulate
|
24990775 |
|