|
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 |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
1973618 |
| Breast Neoplasms |
Associate
|
12456990, 25390939, 36404592 |
| Calcinosis Cutis |
Associate
|
2895475 |
| Carcinogenesis |
Associate
|
1486864, 29028833 |
| Carcinoid Tumor |
Associate
|
38237798 |
| Carcinoma Large Cell |
Associate
|
26960398, 38237798 |
| Carcinoma Merkel Cell |
Associate
|
19020549, 27880818, 29028833, 34593967, 35688945, 35775490 |
| Carcinoma Neuroendocrine |
Associate
|
35608806, 36694106 |
| Carcinoma Non Small Cell Lung |
Associate
|
1690210, 8980399 |
| Carcinoma Small Cell |
Associate
|
27764802 |
| Charcot Marie Tooth Disease |
Associate
|
29034895 |
| Choroideremia |
Associate
|
36395688 |
| Colorectal Neoplasms |
Associate
|
21990958, 31292272 |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
15118395 |
| Corneal Dystrophies Hereditary |
Associate
|
31669782 |
| Esophageal Neoplasms |
Associate
|
10761707, 11473723, 11802801 |
| Familial medullary thyroid carcinoma |
Associate
|
1351466 |
| Glioma |
Associate
|
8286200 |
| Glycogen Storage Disease IIIA |
Associate
|
30269021 |
| Glycogen Storage Disease IIIB |
Associate
|
30408744 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
12865944 |
| Hodgkin Disease |
Associate
|
12865944 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
12169206 |
| Leukemia |
Associate
|
1954386 |
| Leukemia Myeloid |
Associate
|
1954386 |
| Leukemia Myeloid Acute |
Associate
|
1954386 |
| Lung Neoplasms |
Associate
|
11802801, 12169206, 1486864, 17145094, 1973618, 21736709, 2895475 |
| Lymphatic Metastasis |
Associate
|
10761707 |
| Lymphoma Non Hodgkin |
Associate
|
7908219 |
| Machado Joseph Disease |
Associate
|
27346190, 27346191 |
| Medulloblastoma |
Associate
|
16783165, 17465989 |
| Microsatellite Instability |
Associate
|
20708618 |
| Mouth Neoplasms |
Associate
|
1970484 |
| Mucopolysaccharidosis III |
Associate
|
30408744 |
| Multiple Endocrine Neoplasia Type 2a |
Associate
|
1362425 |
| Multiple Endocrine Neoplasia Type 2b |
Associate
|
1362425 |
| Multiple Myeloma |
Associate
|
10618400 |
| Neoplasm Metastasis |
Associate
|
12456990, 1973618, 2895475, 8980399 |
| Neoplasms |
Associate
|
10206304, 10761707, 12707044, 15133474, 19020549, 19596922, 2540955, 25477524, 27276402, 3034978, 36177900, 36694106, 8980399 |
| Neuroblastoma |
Associate
|
12107114, 2501244, 36121500 |
| Neuroendocrine Tumors |
Associate
|
33514539, 36121500 |
| Non Muscle Invasive Bladder Neoplasms |
Inhibit
|
12073046 |
| Ovarian Neoplasms |
Associate
|
12707044 |
| Parkinson Disease |
Associate
|
38615589 |
| Pheochromocytoma |
Associate
|
1362425 |
| Prostatic Neoplasms |
Associate
|
26444865 |
| Retinitis Pigmentosa |
Associate
|
34034222 |
| Small Cell Lung Carcinoma |
Stimulate
|
12107114 |
| Small Cell Lung Carcinoma |
Associate
|
1312669, 1851085, 19020549, 22941189, 23716474, 2456019, 2501244, 2540955, 2548855, 26960398, 27105536, 27764802, 28212573, 2827002, 3034978, 33514539, 34257619, 35194152, 38237798 View all (4 more) |
| Smoke Inhalation Injury |
Associate
|
11802801 |
| Spinocerebellar Ataxias |
Associate
|
32229428 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
19596922 |
| Stomach Neoplasms |
Associate
|
2386738 |
| Tertiary Lymphoid Structures |
Associate
|
2895475 |
| Tongue Neoplasms |
Associate
|
27464948 |
| Triple Negative Breast Neoplasms |
Stimulate
|
36177900 |
| Triple Negative Breast Neoplasms |
Associate
|
37278879 |
| Urinary Bladder Neoplasms |
Associate
|
12073046 |
|