|
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 |
| Retinitis Pigmentosa |
retinitis pigmentosa |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
24705471, 40429751 |
| Alzheimer Disease |
Associate
|
22508715 |
| Asthma |
Stimulate
|
17088949 |
| Astrocytoma |
Stimulate
|
27571068 |
| Breast Neoplasms |
Stimulate
|
15565459 |
| Breast Neoplasms |
Associate
|
17157792, 20473280, 20736367, 23499592, 26261534 |
| Breast Neoplasms Male |
Associate
|
22527098 |
| Carcinoma Hepatocellular |
Associate
|
21530512, 22302133, 32683508, 36660950, 37081465 |
| Carcinoma Hepatocellular |
Stimulate
|
39346916 |
| Carcinoma Non Small Cell Lung |
Associate
|
32964979, 34055989 |
| Carcinoma Ovarian Epithelial |
Associate
|
33155193 |
| Carcinoma Pancreatic Ductal |
Associate
|
14997207, 36434634 |
| Carcinoma Renal Cell |
Associate
|
18582378, 31438640 |
| Carcinoma Squamous Cell |
Associate
|
31030477, 36553675 |
| Cataract |
Associate
|
14551530 |
| COVID 19 |
Associate
|
34698500 |
| Dermatitis Herpetiformis |
Associate
|
22991566 |
| Endometrial Neoplasms |
Associate
|
34187214 |
| Endometriosis |
Associate
|
40187212 |
| Glioblastoma |
Stimulate
|
27571068 |
| Glioma |
Associate
|
25527158, 27571068, 33260155 |
| Inflammation |
Associate
|
33363366 |
| Kidney Neoplasms |
Stimulate
|
18582378 |
| Leukemia Myeloid Acute |
Associate
|
39898241 |
| Lung Neoplasms |
Associate
|
24705471 |
| Multiple Myeloma |
Associate
|
16373656, 39261477 |
| Neoplasm Invasiveness |
Associate
|
35740916 |
| Neoplasm Metastasis |
Associate
|
18582378, 19146682, 23499592, 25213697, 28639884, 31030477, 31438640, 31793719, 40429751 |
| Neoplasms |
Associate
|
14997207, 17465204, 18582378, 23499592, 25177692, 25213697, 25527158, 27571068, 28639884, 29142101, 29622675, 31030477, 33648511, 36660950, 38176295, 39628685, 40429751 View all (2 more) |
| Neuroma Acoustic |
Associate
|
33176868 |
| Osteosarcoma |
Associate
|
25213697, 26319109 |
| Ovarian Neoplasms |
Associate
|
29247567, 31793719 |
| Pancreatic Neoplasms |
Associate
|
17465204, 22064652, 33648511, 37170188 |
| Plaque Amyloid |
Associate
|
20207970 |
| Polypoidal Choroidal Vasculopathy |
Associate
|
36553675 |
| Prostatic Neoplasms |
Associate
|
20672324, 23286446, 24505114, 39628685 |
| Prostatitis |
Associate
|
26211476 |
| Pulmonary Disease Chronic Obstructive |
Stimulate
|
33363366 |
| Rufous oculocutaneous albinism |
Associate
|
40429751 |
| Sarcoidosis |
Inhibit
|
23857158 |
| Sarcoidosis Pulmonary |
Associate
|
23857158 |
| Sarcoma Alveolar Soft Part |
Associate
|
19146682 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
23405089, 31841187 |
| Stomach Neoplasms |
Stimulate
|
30569104 |
| Tachycardia Atrioventricular Nodal Reentry |
Associate
|
18582378 |
| Tuberculosis |
Stimulate
|
23857158 |
| Urinary Bladder Neoplasms |
Associate
|
24823697, 35740916, 38176295 |
| Uterine Cervical Neoplasms |
Associate
|
25177692, 31030477 |
|