|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Bone Marrow Failure Syndrome |
bone marrow failure syndrome 6 |
N/A |
N/A |
GenCC |
| Breast cancer |
Breast cancer, Breast Cancer in BRCA1 mutation carriers, Breast cancer (estrogen-receptor negative) |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Ewing sarcoma |
Ewing sarcoma |
Chemical inhibition of MDM2/MDM4 reduces viability of TP53 wild-type Ewing sarcoma |
30045945 |
CBGDA |
| Glioma |
Glioma |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abortion Spontaneous |
Associate
|
34618298 |
| Adenocarcinoma of Lung |
Associate
|
27462918 |
| Aneuploidy |
Stimulate
|
25405759 |
| Astrocytoma |
Associate
|
20068183 |
| Atrioventricular Septal Defect |
Associate
|
25996639 |
| Brain Neoplasms |
Associate
|
23508638 |
| Breast Neoplasms |
Associate
|
21750655, 23544013, 24667108, 26001071, 26095524, 26471763, 26909605, 29697201, 31181622, 32802855, 35461219, 38400758, 39614330 |
| Burkitt Lymphoma |
Associate
|
19759907, 22845047 |
| Carcinogenesis |
Associate
|
19497887, 21540763, 24667108, 28099948, 30672125, 38281029 |
| Carcinoma |
Associate
|
34312479 |
| Carcinoma Hepatocellular |
Associate
|
24232099, 30021196 |
| Carcinoma Lobular |
Associate
|
31229512 |
| Carcinoma Merkel Cell |
Associate
|
30598450, 34593967 |
| Carcinoma Non Small Cell Lung |
Associate
|
27462918 |
| Carcinoma Pancreatic Ductal |
Associate
|
26606261 |
| Carcinoma Squamous Cell |
Associate
|
21823114, 28099906, 29073727, 31513313 |
| Cognition Disorders |
Stimulate
|
23861893 |
| Colonic Neoplasms |
Associate
|
18172009 |
| Colorectal Neoplasms |
Stimulate
|
22870278 |
| Colorectal Neoplasms |
Associate
|
25512388, 32467998, 38281029 |
| Congenital Bone Marrow Failure Syndromes |
Associate
|
33104793 |
| Death |
Associate
|
23934659, 31513313 |
| Dementia |
Associate
|
23861893 |
| Diabetes Mellitus Type 1 |
Associate
|
31995625 |
| Down Syndrome |
Associate
|
23089923 |
| Endometrial Hyperplasia |
Associate
|
26867771 |
| Endometrial Neoplasms |
Associate
|
21851624 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
23724042 |
| Glioblastoma |
Associate
|
19435819, 20406234, 33142244, 40514380 |
| Glioma |
Associate
|
30038284 |
| Hepatitis B |
Stimulate
|
26909605 |
| Hepatoblastoma |
Associate
|
37992967 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
19497887, 23544013, 24667108 |
| Hypoxia |
Associate
|
26207380 |
| Intestinal Diseases |
Associate
|
25427447 |
| Leukemia |
Associate
|
21784052, 26720344 |
| Leukemia Myeloid Acute |
Associate
|
20423286, 21784052, 28340577, 35269477 |
| Leukemia Myeloid Acute |
Stimulate
|
25405759 |
| Leukemia Promyelocytic Acute |
Associate
|
28340577 |
| Liposarcoma |
Stimulate
|
23165797 |
| Liposarcoma |
Associate
|
24018792 |
| Lymphatic Metastasis |
Associate
|
21540763 |
| Lymphatic Metastasis |
Stimulate
|
27626496 |
| Lymphoma B Cell |
Associate
|
25203442 |
| Lymphoma Non Hodgkin |
Associate
|
25203442, 34312479 |
| Melanoma |
Associate
|
27927748, 28973015, 31439820, 39273363 |
| Melanoma |
Inhibit
|
31181622 |
| Melanoma Cutaneous Malignant |
Associate
|
39273363 |
| Mouth Neoplasms |
Associate
|
22052649 |
| Neoplasm Metastasis |
Associate
|
34183353 |
| Neoplasms |
Inhibit
|
11297540, 19255450, 19619542, 21750655, 23035244, 25105592, 25203442, 26812210 |
| Neoplasms |
Associate
|
11483599, 17651783, 18172009, 18335186, 19497887, 20226197, 20406234, 21075910, 21151896, 22120712, 22408446, 24667108, 26471763, 26720344, 26867771, 26876197, 28032389, 28099948, 28973015, 29158845, 30021196, 30563882, 30598450, 30672125, 31181622, 31229512, 31513313, 32556890, 32802855, 34017087, 35788723, 36300671, 36897777, 38141254, 38281029, 39201394, 40382619, 40626562 View all (23 more) |
| Neoplasms |
Stimulate
|
22870278, 26965628 |
| Neoplasms Second Primary |
Associate
|
23508638 |
| Neuroblastoma |
Associate
|
19432880 |
| Orofaciodigital syndrome Shashi type |
Associate
|
34260915 |
| Oropharyngeal Neoplasms |
Associate
|
21540763, 22052649, 31513313 |
| Osteosarcoma |
Associate
|
32075226 |
| Ovarian Neoplasms |
Associate
|
23544013, 26867771, 28973015 |
| Pancreatic Neoplasms |
Associate
|
28099906 |
| Parkinson Disease |
Associate
|
33504893 |
| Prostatic Neoplasms |
Associate
|
10792001, 20855462, 32556890 |
| Retinoblastoma |
Associate
|
22870278, 22916154, 26812210, 32139107, 33678118 |
| Rhabdomyosarcoma |
Associate
|
24027430 |
| Sarcoma |
Associate
|
26095524, 34312479 |
| Sepsis |
Associate
|
33182754 |
| Small Cell Lung Carcinoma |
Associate
|
26274820 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
15113040, 17651783, 21540763, 21823114, 23508638, 32079256 |
| Stomach Neoplasms |
Associate
|
16410721, 25427447, 27626496, 28099948 |
| Testicular Germ Cell Tumor |
Associate
|
20372076 |
| Thyroid Cancer Papillary |
Associate
|
18335186 |
| Triple Negative Breast Neoplasms |
Associate
|
24325915 |
| Tuberculosis Multidrug Resistant |
Associate
|
16410721, 24637737, 28547957 |
| Urinary Bladder Neoplasms |
Associate
|
25026175 |
| Uterine Cervical Neoplasms |
Associate
|
24606473 |
|