|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease, Alzheimer's disease or gastroesophageal reflux disease |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Tourette Syndrome |
Tourette syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
24498085 |
| Alzheimer Disease |
Associate
|
19734902, 20209083, 20534741, 20554627, 20697030, 20739100, 20838239, 21059989, 21220176, 21379329, 21912625, 22015308, 22445811, 22482808, 22508715, 22539578, 22943764, 22952074, 23226438, 23360175, 23419238, 23601808, 23643458, 23870418, 23954108, 23954523, 24618820, 24670887, 25169757, 25189118, 25723573, 26625115, 27017968, 27117083, 27430330, 27482534, 28005991, 28073596, 28084078, 28116548, 28199971, 30286791, 30297968, 30472946, 30830563, 31262699, 32709662, 32991610, 33027662, 33170153, 33386803, 34092785, 34650147, 34752346, 35640139, 35715361, 35811524, 37493530, 38044212, 38241287, 40095677, 40565532 View all (47 more) |
| Amyotrophic Lateral Sclerosis |
Associate
|
33953791 |
| Arrhythmias Cardiac |
Associate
|
30348784, 37528649 |
| Atrophy |
Associate
|
24670887, 27117083 |
| Cardiomyopathies |
Associate
|
37528649 |
| Cerebral Infarction |
Associate
|
40442227 |
| Cognition Disorders |
Associate
|
22952074, 26889634, 27117083, 30472946 |
| Cognitive Dysfunction |
Associate
|
25189118 |
| Dementia |
Associate
|
21297263, 30830563, 36191742, 36982820 |
| Dementia Vascular |
Associate
|
30830563 |
| Depressive Disorder |
Associate
|
33386803 |
| Disease |
Associate
|
24438528 |
| Down Syndrome |
Associate
|
23601808 |
| Epilepsy Frontal Lobe |
Associate
|
27117083 |
| Heart Arrest |
Associate
|
27100291 |
| Heart Defects Congenital |
Associate
|
37528649 |
| Hematologic Neoplasms |
Associate
|
39499083 |
| Leukemia |
Associate
|
12461747, 23673860 |
| Leukemia Biphenotypic Acute |
Associate
|
12461747, 39499083 |
| Leukemia Myeloid Acute |
Associate
|
12461747, 24498085, 39499083, 9616163 |
| Leukoencephalopathies |
Associate
|
22745009, 32062564 |
| Long QT Syndrome |
Associate
|
27765793 |
| Lymphoma T Cell |
Associate
|
30914738 |
| Memory Disorders |
Associate
|
29883038 |
| Muscular Dystrophy Congenital Megaconial Type |
Associate
|
37528649 |
| Neoplasm Metastasis |
Inhibit
|
31648990 |
| Neoplasms |
Associate
|
24498085, 30914738 |
| Nerve Degeneration |
Associate
|
27017968 |
| Neurodegenerative Diseases |
Associate
|
30472946, 32062564, 33170153, 33386803 |
| Neurologic Manifestations |
Associate
|
30472946 |
| Parkinson Disease |
Associate
|
21912625, 26889634 |
| Parkinson Disease |
Inhibit
|
33386803 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
39499083 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
15774621 |
| Sarcoma |
Associate
|
36232302 |
| Sarcoma Myeloid |
Associate
|
36916780 |
| Stomach Neoplasms |
Associate
|
33397371 |
| Stroke |
Associate
|
30830563 |
| Tourette Syndrome |
Associate
|
28555406 |
| Urinary Bladder Neoplasms |
Inhibit
|
31648990 |
|