|
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 |
| Glaucoma |
Glaucoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
19887373 |
| Adenocarcinoma of Lung |
Stimulate
|
36595978 |
| Adrenocortical Carcinoma |
Stimulate
|
36595978 |
| Alzheimer Disease |
Associate
|
21846794, 31208978 |
| Amyotrophic Lateral Sclerosis |
Associate
|
32217641 |
| Asthma |
Associate
|
37717070 |
| Astrocytoma |
Associate
|
14769134 |
| Autoimmune Diseases |
Associate
|
12509450 |
| Bohring syndrome |
Associate
|
33141183 |
| Bone Cysts Aneurysmal |
Associate
|
33147323 |
| Breast Neoplasms |
Associate
|
22911749, 25913416, 29453318, 38176460 |
| Carcinogenesis |
Associate
|
17310993, 21976412, 26860615, 29453318, 30696738, 31729427, 35651729, 36595978 |
| Carcinoma Hepatocellular |
Associate
|
36529521, 38230456, 40264052 |
| Carcinoma Hepatocellular |
Stimulate
|
36595978 |
| Carcinoma Non Small Cell Lung |
Associate
|
23536791 |
| Carcinoma Ovarian Epithelial |
Associate
|
17310993, 20856201 |
| Carcinoma Pancreatic Ductal |
Associate
|
26234680 |
| Carcinoma Squamous Cell |
Associate
|
36970727 |
| Cell Transformation Neoplastic |
Associate
|
36635500 |
| Cholangiocarcinoma |
Associate
|
36635270 |
| Cognition Disorders |
Associate
|
26566043 |
| Cognitive Dysfunction |
Associate
|
21099291 |
| Colorectal Neoplasms |
Associate
|
26860615, 30219676, 34158864, 36727289, 38273088 |
| Composite Lymphoma |
Associate
|
34862698, 37658696 |
| COVID 19 |
Associate
|
38290414 |
| Demyelinating Diseases |
Associate
|
32217641 |
| Diabetes Mellitus |
Inhibit
|
21099291 |
| Diabetes Mellitus |
Associate
|
25927630 |
| Diabetic Nephropathies |
Associate
|
36792603 |
| Duane Retraction Syndrome |
Associate
|
26234680 |
| Embolism Fat |
Associate
|
30901032 |
| Frontotemporal Lobar Degeneration |
Associate
|
36949537 |
| Glioblastoma |
Associate
|
21976412, 24865424, 29415469, 29592812, 33141183, 35871232 |
| Glioma |
Associate
|
14769134, 16729017, 19506066, 21655185, 24286314, 26047657, 31253583, 31862871, 35299889, 36171198 |
| Heart Diseases |
Associate
|
29518215 |
| Helicobacter Infections |
Associate
|
38394397 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
29453318 |
| Hirschsprung Disease |
Associate
|
37061531 |
| Inflammation |
Associate
|
26293469, 38394397 |
| Lung Neoplasms |
Associate
|
30568224, 31729427 |
| Medulloblastoma |
Associate
|
14769134 |
| Melanoma |
Associate
|
25169209 |
| Melanoma Cutaneous Malignant |
Stimulate
|
36595978 |
| Mitochondrial Diseases |
Inhibit
|
39206910 |
| Multiple Myeloma |
Associate
|
32655719 |
| Multiple Sclerosis |
Associate
|
32217641 |
| Myasthenic Syndromes Congenital |
Associate
|
19147685 |
| Neoplasm Metastasis |
Associate
|
32991341, 35651729 |
| Neoplasms |
Stimulate
|
16729017, 22972848, 23536791, 32655719, 38394397 |
| Neoplasms |
Associate
|
17310993, 19506066, 21289045, 21976412, 26416554, 26683771, 26860615, 27367564, 30568224, 33141183, 35651729, 36595978, 36635500, 36958328, 39206910, 9166399 View all (1 more) |
| Neoplasms |
Inhibit
|
31729427, 36529521 |
| Neuroblastoma |
Associate
|
26683771, 9094658 |
| Neurodegenerative Diseases |
Associate
|
32217641, 33254518 |
| Neuroendocrine Tumors |
Associate
|
32991341, 34862698, 37658696 |
| Osteosarcoma |
Associate
|
33621196 |
| Ovarian Neoplasms |
Associate
|
17310993, 20856201, 22972848 |
| Pancreatic Neoplasms |
Associate
|
31355266 |
| Parkinson Disease |
Associate
|
25646437, 26566043 |
| Parkinson Disease Secondary |
Associate
|
33254518 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
36875548 |
| Prostatic Neoplasms |
Associate
|
33893085 |
| Sarcoma |
Associate
|
35651729 |
| Scleroderma Systemic |
Associate
|
8843857 |
| Stomach Neoplasms |
Associate
|
27696637, 36635500 |
| Urinary Bladder Neoplasms |
Associate
|
28380435 |
| Uterine Cervical Neoplasms |
Associate
|
37042849, 39206910 |
| Uterine Cervicitis |
Associate
|
30696738 |
| Vascular Diseases |
Associate
|
26293469 |
| Wounds and Injuries |
Associate
|
36792603 |
|