|
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 |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma Follicular |
Associate
|
16798934 |
| Ataxia Telangiectasia |
Associate
|
11457838 |
| Bone Neoplasms |
Associate
|
23199169 |
| Breast Neoplasms |
Associate
|
15569667, 18507837, 19242061, 20003265, 25927147, 29562954, 38198023, 9528753 |
| Burkitt Lymphoma |
Associate
|
22885699, 28209658, 31849147, 32449435, 33020271, 34472720, 36201743, 37053555 |
| Calcinosis Cutis |
Stimulate
|
15980885 |
| Carcinogenesis |
Associate
|
11418483 |
| Carcinoma Hepatocellular |
Associate
|
23082062 |
| Carcinoma Non Small Cell Lung |
Associate
|
20631637, 26201895 |
| Carcinoma Pancreatic Ductal |
Associate
|
20113529, 31381571 |
| Cardiomyopathy infantile histiocytoid |
Associate
|
19787802 |
| Cholangiocarcinoma |
Associate
|
35792239 |
| Colonic Neoplasms |
Associate
|
16012517, 19542220 |
| Colorectal Neoplasms |
Associate
|
15980885 |
| Death |
Associate
|
18507837 |
| Diabetes Mellitus Type 2 |
Associate
|
27380896, 28812028 |
| Endometrial Neoplasms |
Associate
|
16884382 |
| Feeding and Eating Disorders |
Associate
|
34579086 |
| Fibrosarcoma |
Associate
|
8816437 |
| GATA2 Deficiency |
Associate
|
20062012 |
| Glioblastoma |
Stimulate
|
10416984 |
| Glioblastoma |
Associate
|
22217655 |
| Glioma |
Associate
|
10416984, 30548945 |
| Gliosarcoma |
Associate
|
10416984 |
| Hashimoto Disease |
Associate
|
12890807 |
| Hemangiopericytoma |
Associate
|
18459177 |
| Hepatoblastoma |
Associate
|
32871763 |
| Hodgkin Disease |
Associate
|
20062012 |
| Hyperimmunoglobulin G1(A1) Syndrome |
Stimulate
|
20496072 |
| Hyperplasia |
Associate
|
16445666 |
| Immune System Diseases |
Associate
|
35687490 |
| Infections |
Associate
|
10933691 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
11675358, 12393642, 12644019, 15096562 |
| Leukemia Myeloid Acute |
Associate
|
20062012, 30381403, 34103301 |
| Leukemia Prolymphocytic T Cell |
Associate
|
26003188 |
| Lymphoma |
Associate
|
20062012, 25839159, 33399078, 35687490 |
| Lymphoma B Cell |
Associate
|
10397744, 11675358, 15665120, 28209658, 31849147, 36221796 |
| Lymphoma B Cell Marginal Zone |
Associate
|
37941429 |
| Lymphoma Follicular |
Associate
|
27959929 |
| Lymphoma Large B Cell Diffuse |
Associate
|
11675358, 20062012, 22885699, 31849147, 35687490 |
| Lymphoma Mantle Cell |
Associate
|
15096562, 18391076, 20062012, 27123851, 30538135, 9376597 |
| Lymphoma T Cell |
Associate
|
24345752 |
| Lymphoma T Cell Cutaneous |
Associate
|
16614728 |
| Melanoma |
Associate
|
11253137, 16815849, 20496072 |
| Migraine Disorders |
Associate
|
28801450 |
| Multiple Myeloma |
Associate
|
11418483, 14531906, 16728703, 17914559, 19446321, 20093236, 24638926 |
| Muscle Neoplasms |
Stimulate
|
20174823 |
| Myoclonic dystonia |
Associate
|
18391076 |
| Myotonic Dystrophy |
Associate
|
40156865 |
| Nasopharyngeal Carcinoma |
Associate
|
29367693 |
| Neoplasm Metastasis |
Stimulate
|
11253137 |
| Neoplasm Metastasis |
Associate
|
15980885 |
| Neoplasms |
Associate
|
10397744, 16123218, 16798934, 17517622, 18381641, 19787802, 20174823, 23583282, 25300797, 25578962, 26201895, 26491227, 28481029, 31302234, 36853016, 37000627, 8816437 View all (2 more) |
| Neoplasms |
Inhibit
|
16012517 |
| Neuroblastoma |
Associate
|
14500366, 33456359 |
| Non Muscle Invasive Bladder Neoplasms |
Stimulate
|
20174823 |
| Osteosarcoma |
Associate
|
25300797, 25418192 |
| Ovarian Neoplasms |
Associate
|
19738611 |
| Pancreatic Neoplasms |
Associate
|
11469683 |
| Paraproteinemias |
Associate
|
19996118 |
| Parkinson Disease |
Associate
|
25182869 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
20062012, 27750045, 28671688 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
15667533, 34396983 |
| Prostatic Neoplasms |
Associate
|
33522043 |
| Salivary Duct Calculi |
Associate
|
23583282 |
| Soft Tissue Neoplasms |
Associate
|
18019405 |
| Stomach Neoplasms |
Associate
|
19210573 |
| Thyroid cancer Hurthle cell |
Associate
|
19787802 |
| Thyroid Neoplasms |
Associate
|
10510327 |
| Urinary Bladder Neoplasms |
Associate
|
19762144 |
|