|
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 |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Inhibit
|
11506494 |
| Breast Neoplasms |
Associate
|
15923424, 16760287, 26271034 |
| Burkitt Lymphoma |
Associate
|
10702389, 17485552, 19694314 |
| Carcinogenesis |
Associate
|
10702389, 23725122, 37725511 |
| Carcinogenesis |
Inhibit
|
34851822 |
| Carcinoma Hepatocellular |
Associate
|
26576645, 28639733 |
| Carcinoma Non Small Cell Lung |
Associate
|
35058503 |
| Carcinoma Pancreatic Ductal |
Associate
|
28987387 |
| Carcinoma Renal Cell |
Associate
|
34793840 |
| Carcinoma Squamous Cell |
Associate
|
11710944, 16158962 |
| Carotid Body Tumor |
Associate
|
30967136 |
| Congenital Abnormalities |
Associate
|
32105419 |
| Conversion Disorder |
Associate
|
36129061 |
| Death |
Associate
|
32105419 |
| Developmental Disabilities |
Associate
|
32105419 |
| Endometrial Neoplasms |
Inhibit
|
11506494 |
| Endometrial Neoplasms |
Associate
|
16357517 |
| Ependymoma |
Associate
|
31432742 |
| Esophageal Neoplasms |
Associate
|
31830929 |
| Glioma |
Associate
|
29762838 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
16760287 |
| Hypoxia |
Associate
|
36897975 |
| Inflammation |
Associate
|
23108140 |
| Inflammation |
Inhibit
|
33786633 |
| Intellectual Disability |
Associate
|
32105419 |
| Leiomyosarcoma |
Associate
|
29321523 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
16038780, 18694959 |
| Lung Neoplasms |
Associate
|
12032225, 15976342, 18793406, 19694314, 21325284 |
| Lymphoma Non Hodgkin |
Associate
|
16158962 |
| Malformations of Cortical Development Group I |
Inhibit
|
36129061 |
| Medulloblastoma |
Associate
|
11577176 |
| Melanoma |
Associate
|
10727462 |
| Mitochondrial Diseases |
Associate
|
36129061, 36897975 |
| Nasopharyngeal Carcinoma |
Associate
|
12032225, 17694957, 19694314 |
| Neoplasms |
Associate
|
10702389, 17485552, 19252413, 21325284, 23725122, 26728921, 27124644, 34487971, 34793840, 34851822, 35716663 |
| Neoplasms |
Inhibit
|
15976342, 16357517, 17106239, 18793406, 22957647, 23572574, 26271034, 27121059, 27567532, 28987387, 29925966, 33934450, 34397405, 35058503 |
| Neuroblastoma |
Associate
|
11736646, 33934450 |
| Obesity |
Associate
|
23591406 |
| Ovarian Neoplasms |
Associate
|
12915404 |
| Pancreatic Neoplasms |
Associate
|
28987387 |
| Precancerous Conditions |
Associate
|
16158962 |
| Prostatic Neoplasms |
Associate
|
18418057, 37352376 |
| Radiation Injuries |
Stimulate
|
35058503 |
| Reperfusion Injury |
Associate
|
36129061 |
| Retinoblastoma |
Associate
|
16955460, 19252413, 24166507, 27124644, 8643454 |
| Retinoblastoma |
Inhibit
|
34851822 |
| Small Cell Lung Carcinoma |
Inhibit
|
9192669 |
| Uterine Cervical Dysplasia |
Associate
|
16158962 |
| Uterine Cervical Neoplasms |
Associate
|
26728921 |
| Uterine Diseases |
Inhibit
|
11506494 |
| Ventricular Remodeling |
Associate
|
36129061 |
|