|
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 specific mortality in estrogen receptor negative breast cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acromegaly |
Associate
|
21744088, 21810856, 28434012, 39201352 |
| ACTH Secreting Pituitary Adenoma |
Associate
|
17159301, 19318729 |
| Adenocarcinoma |
Associate
|
33024199 |
| Adenoma |
Associate
|
25536318, 34471015 |
| Atherosclerosis |
Associate
|
29685964 |
| Carcinoid Tumor |
Associate
|
11772967, 9484822 |
| Carcinoma Hepatocellular |
Associate
|
29282035, 31236404, 31638225 |
| Carcinoma Merkel Cell |
Associate
|
37540574 |
| Carcinoma Ovarian Epithelial |
Associate
|
39519394 |
| Cholangiocarcinoma |
Associate
|
29282035 |
| Colonic Neoplasms |
Stimulate
|
16610049 |
| Colorectal Neoplasms |
Associate
|
16610049 |
| Crohn Disease |
Associate
|
20150960, 21383526 |
| Esophageal Neoplasms |
Associate
|
36726845 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
35578166 |
| Gallbladder Neoplasms |
Associate
|
23991955 |
| Gastro enteropancreatic neuroendocrine tumor |
Associate
|
26028102 |
| Glioblastoma |
Associate
|
35163067 |
| Glucagonoma |
Associate
|
8132773 |
| Growth Hormone Deficiency With Pituitary Anomalies |
Associate
|
26391562 |
| Growth Hormone Secreting Pituitary Adenoma |
Associate
|
20464704, 21744088, 26607296, 30078825, 34601790 |
| Hematologic Diseases |
Associate
|
33297556 |
| Hyperaldosteronism |
Associate
|
34690553 |
| Hyperpituitarism |
Associate
|
17420609 |
| Hypothyroidism |
Associate
|
28397723, 28434012 |
| Insulinoma |
Associate
|
20686293 |
| Kidney Diseases |
Associate
|
18443363 |
| Laryngeal Neoplasms |
Inhibit
|
31196171 |
| Lymphoma Mantle Cell |
Associate
|
28059098 |
| Meningioma |
Associate
|
26722517, 33899156 |
| Neoplasm Metastasis |
Associate
|
16508627, 31196171, 32495873, 39519394 |
| Neoplasms |
Associate
|
11772967, 17159301, 17420609, 20032567, 21744088, 26722517, 27875519, 28397723, 29282035, 30078825, 31381461, 32429652, 33491286, 33990938, 34601790, 35163067, 35603200, 37540574, 9062398 View all (4 more) |
| Neuroendocrine Tumors |
Associate
|
20529830, 20682006, 23236542, 26447992, 26673010, 27622342, 34601790, 39682758 |
| Neuroma Acoustic |
Associate
|
14747443 |
| Non functioning pancreatic endocrine tumor |
Associate
|
23211371 |
| Pancreatic Neoplasms |
Associate
|
21692047, 22136833, 25890201 |
| Pancreatitis |
Associate
|
22136833, 25890201 |
| Parkinson Disease |
Associate
|
26889637 |
| Peritonitis |
Associate
|
39519394 |
| Personality Disorders |
Associate
|
26673010, 34601790 |
| Pituitary ACTH Hypersecretion |
Stimulate
|
19318729 |
| Pituitary ACTH Hypersecretion |
Associate
|
34471015 |
| Pituitary Neoplasms |
Associate
|
20464704, 25536318, 34674191, 39202532 |
| Polycystic Kidney Autosomal Dominant |
Associate
|
21744088 |
| Polycystic Kidney Diseases |
Associate
|
31176519 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
33297556 |
| Prostatic Neoplasms |
Associate
|
21151154, 23341348 |
| Prostatic Neoplasms Castration Resistant |
Stimulate
|
35899879 |
| Rhabdomyosarcoma |
Associate
|
33297556 |
| Spherocytosis Hereditary |
Associate
|
33297556 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
31196171 |
| Stomach Neoplasms |
Associate
|
32495873 |
| Thyroid Neoplasms |
Associate
|
10768564, 24465589 |
| Thyroiditis |
Associate
|
23672766 |
| Trochlear Nerve Diseases |
Associate
|
35955756 |
| Uveal melanoma |
Associate
|
29949880 |
| von Hippel Lindau Disease |
Associate
|
28094316 |
| Warburg Sjo Fledelius syndrome |
Associate
|
39202532 |
|