|
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 |
| Microcephaly |
microcephaly |
N/A |
N/A |
GenCC |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
20305619, 22012766 |
| Adenocarcinoma Clear Cell |
Stimulate
|
25971681 |
| Adenocarcinoma Mucinous |
Stimulate
|
25971681 |
| Adenomyosis |
Associate
|
39595532 |
| Alzheimer Disease |
Associate
|
30367664 |
| Barrett Esophagus |
Associate
|
21916995 |
| Brain Neoplasms |
Associate
|
18826648, 33120728 |
| Breast Neoplasms |
Associate
|
22626806, 24022895, 33541259, 34291358, 36996499, 37607966 |
| Calcinosis Cutis |
Stimulate
|
23715514 |
| Carcinogenesis |
Associate
|
18419830, 19258308, 21829201, 21881409, 22012766, 22258704, 24151393 |
| Carcinoma Endometrioid |
Associate
|
26191146 |
| Carcinoma Hepatocellular |
Stimulate
|
24305552 |
| Carcinoma Hepatocellular |
Associate
|
25747387, 31888604 |
| Carcinoma Non Small Cell Lung |
Associate
|
29141252 |
| Carcinoma Small Cell |
Associate
|
20305619 |
| Carcinoma Squamous Cell |
Associate
|
26499463 |
| Colonic Diseases |
Stimulate
|
21881409 |
| Colorectal Neoplasms |
Associate
|
28526879, 33882945 |
| Diarrhea |
Inhibit
|
28764761 |
| Endometriosis |
Associate
|
35269992 |
| Esophageal Neoplasms |
Associate
|
24163304 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
24163304, 28713964, 30202417 |
| Esophagitis |
Associate
|
21916995 |
| Glioblastoma |
Stimulate
|
21881409 |
| Glioblastoma |
Associate
|
22258704, 24075410, 26100017, 27470713, 30362859, 30959276 |
| Glioma |
Associate
|
24022895 |
| Hereditary Angioedema Types I and II |
Inhibit
|
25971681 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Stimulate
|
21881409 |
| Inflammation |
Associate
|
28542447 |
| Intestinal Diseases |
Stimulate
|
21829201, 24151393 |
| Irritable Bowel Syndrome |
Associate
|
26327765, 32945509 |
| Irritable Bowel Syndrome |
Inhibit
|
28764761 |
| Lipoid Proteinosis of Urbach and Wiethe |
Associate
|
21881409 |
| Liver Neoplasms |
Associate
|
31888604 |
| Lung Neoplasms |
Associate
|
20305619, 23715514, 24787949 |
| Lymphatic Metastasis |
Associate
|
22012766, 24151393, 28713964 |
| Medulloblastoma |
Associate
|
18826648, 35011618 |
| Medulloblastoma |
Stimulate
|
21881409 |
| Necrosis |
Associate
|
35269992 |
| Neoplasm Metastasis |
Associate
|
24151393, 34291358 |
| Neoplasm Metastasis |
Stimulate
|
31888604 |
| Neoplasms |
Associate
|
18826648, 19258308, 23715514, 24022895, 24061461, 24163304, 26100017, 26191146, 26499463, 28526879, 28713964, 28862656, 30362859, 30367664, 30441806, 30959276, 31888604, 33120728, 33541259, 34291358, 34768932, 37607966 View all (7 more) |
| Neoplasms |
Stimulate
|
21881409, 22258704 |
| Nervous System Neoplasms |
Associate
|
18419830, 21881409 |
| Ovarian Neoplasms |
Associate
|
25971681, 26563371, 34768932 |
| Pancreatic Neoplasms |
Associate
|
33253517 |
| Prostatic Neoplasms |
Associate
|
32882325 |
| Retinal Dysplasia |
Stimulate
|
21829201 |
| Rufous oculocutaneous albinism |
Associate
|
25283629 |
| Stomach Diseases |
Associate
|
21829201 |
| Stomach Neoplasms |
Associate
|
21829201, 24151393 |
| Triple Negative Breast Neoplasms |
Associate
|
22626806 |
| Urinary Bladder Neoplasms |
Associate
|
24061461 |
| Uterine Cervical Neoplasms |
Associate
|
18419830 |
|