|
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 |
| Diabetes |
Type 2 diabetes, Type 2 diabetes (PheCode 250.2) |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abnormalities Drug Induced |
Stimulate
|
22869527 |
| Adamantinoma |
Associate
|
29241927 |
| Adenocarcinoma |
Stimulate
|
34134633 |
| Adenocarcinoma of Lung |
Associate
|
35855850 |
| Aneuploidy |
Associate
|
28855393 |
| Breast Neoplasms |
Associate
|
36864125 |
| Brenner Tumor |
Associate
|
33077920 |
| Carcinogenesis |
Associate
|
28855393, 33714201 |
| Carcinoma |
Associate
|
25188299 |
| Carcinoma Hepatocellular |
Associate
|
26219398, 26219896 |
| Carcinoma Neuroendocrine |
Associate
|
34247193 |
| Carcinoma Non Small Cell Lung |
Associate
|
27956147, 35855850, 36142417 |
| Carcinoma Renal Cell |
Associate
|
33714201 |
| Carcinoma Squamous Cell |
Associate
|
24323028 |
| Cholangiocarcinoma |
Associate
|
24563076 |
| Cleft Lip |
Associate
|
29241927 |
| Colorectal Neoplasms |
Associate
|
36221072 |
| Delayed Cranial Ossification due to CBFB Haploinsufficiency |
Associate
|
29241927 |
| Emanuel syndrome |
Stimulate
|
15198734 |
| Endometrial Neoplasms |
Associate
|
29588307 |
| Epilepsies Partial |
Associate
|
30220708 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
25535896, 25760075 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
29241927 |
| Ganglioglioma |
Associate
|
36647073 |
| Genetic Diseases Inborn |
Associate
|
29241927, 32416892 |
| Glioblastoma |
Associate
|
21113414, 27829236, 29361062, 31290679, 32949176, 33168106, 33853673, 35151844, 36002559, 36194351, 36647073 |
| Glioma |
Associate
|
21113414, 25135958, 28379477, 28976058, 32413119, 32949176, 34160364, 36647073 |
| Glioma |
Stimulate
|
28273854 |
| Hematologic Neoplasms |
Associate
|
32199932 |
| Leukemia Myeloid Acute |
Associate
|
32402250 |
| Lung Neoplasms |
Associate
|
25535896, 36042187 |
| Lymphatic Metastasis |
Associate
|
36221072 |
| Lymphoma Non Hodgkin |
Associate
|
36647073 |
| Melanoma |
Associate
|
32493317 |
| Multiple Myeloma |
Associate
|
15198734, 23522059 |
| Nasopharyngeal Carcinoma |
Associate
|
25535896 |
| Neoplasm Metastasis |
Associate
|
36221072 |
| Neoplasms |
Associate
|
17914111, 20348956, 22869527, 24121792, 26219398, 28273854, 28379477, 28855393, 28912153, 29135996, 29358577, 30024460, 32402250, 34134633, 35151844, 36042187 View all (1 more) |
| Neoplasms |
Inhibit
|
36864125 |
| Neoplasms Neuroepithelial |
Associate
|
36647073 |
| Non Muscle Invasive Bladder Neoplasms |
Stimulate
|
29358577 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
40603902 |
| Nonsyndromic Holoprosencephaly |
Associate
|
34134633 |
| Oculocutaneous albinism type 2 |
Stimulate
|
33714201 |
| Osteosarcoma |
Associate
|
30024460 |
| Personality Disorders |
Associate
|
26219896 |
| Prodromal Symptoms |
Stimulate
|
33714201 |
| Rectal Neoplasms |
Associate
|
30341253 |
| Respiratory Tract Infections |
Associate
|
32208524 |
| Roberts Syndrome |
Associate
|
29241927 |
| Sarcoma |
Associate
|
29135996, 30024460 |
| Thyroid Carcinoma Anaplastic |
Inhibit
|
17914111 |
| Thyroid Neoplasms |
Inhibit
|
17914111 |
| Triple Negative Breast Neoplasms |
Associate
|
27231203, 40179432 |
| Urinary Bladder Diseases |
Associate
|
28855393 |
| Urinary Bladder Neoplasms |
Associate
|
20348956, 21459758, 24121792, 26374428, 32384449, 33213418, 34160364, 35151844 |
| Urinary Bladder Neoplasms |
Inhibit
|
28855393 |
| Urinary Bladder Neoplasms |
Stimulate
|
29358577 |
| Uterine Cervical Neoplasms |
Associate
|
23936413, 25669975 |
| Wolf Hirschhorn Syndrome |
Associate
|
29241927, 32416892 |
|