|
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
32372138, 35476781, 36197217 |
| Anophthalmia with pulmonary hypoplasia |
Associate
|
37449843 |
| Breast Neoplasms |
Associate
|
34667023, 38116315 |
| Carcinoma Hepatocellular |
Associate
|
36461603 |
| Carcinoma Non Small Cell Lung |
Associate
|
31692284, 36814090 |
| Carcinoma Ovarian Epithelial |
Associate
|
35031063 |
| Carcinoma Renal Cell |
Associate
|
35808868, 39776912 |
| Colitis |
Stimulate
|
30863922 |
| Colonic Neoplasms |
Associate
|
35413978 |
| Colorectal Neoplasms |
Associate
|
34441055, 35101943, 35990637, 37023721, 37511338 |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
35990637 |
| COVID 19 |
Stimulate
|
36052094 |
| Cystic Fibrosis |
Associate
|
35784330 |
| Diabetes Mellitus Type 1 |
Stimulate
|
30863922 |
| Drug Hypersensitivity |
Stimulate
|
30863922 |
| Ermine phenotype |
Associate
|
27566252 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
37059106, 37187751 |
| Frontotemporal Dementia |
Associate
|
37979250 |
| Glioblastoma |
Associate
|
35121903 |
| Glioma |
Associate
|
37441589 |
| Hepatitis E |
Associate
|
30510965 |
| Hodgkin Disease |
Associate
|
26650888 |
| Inflammation |
Stimulate
|
30697874 |
| Kidney Neoplasms |
Associate
|
34319001 |
| Lung Neoplasms |
Associate
|
39211047 |
| Lymphoma B Cell |
Associate
|
37862676 |
| Lymphoma B Cell |
Inhibit
|
40243506 |
| Lymphoma Large B Cell Diffuse |
Associate
|
34980601 |
| Melanoma |
Associate
|
26815318, 26997480, 30684558, 32041674, 33028693, 35345335, 37684649 |
| Melanoma |
Inhibit
|
36634707 |
| Neoplasm Metastasis |
Associate
|
31692284 |
| Neoplasm Metastasis |
Inhibit
|
36814090 |
| Neoplasms |
Associate
|
22585562, 27566252, 28178681, 29361059, 29575535, 30269996, 30684558, 31692284, 32973330, 33115513, 33740125, 34645670, 35013211, 35961204, 36046784, 36613817, 36630920, 37059106, 37180139, 37449843, 37958916, 37968341, 38125721, 38297292, 39819723, 40504311 View all (11 more) |
| Neoplasms |
Inhibit
|
40551112 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
33323544, 33388091 |
| Osteosarcoma |
Associate
|
38297292 |
| Ovarian Diseases |
Associate
|
39754905 |
| Ovarian Neoplasms |
Associate
|
30697874, 35186171 |
| Pancreatic Neoplasms |
Associate
|
34332578 |
| Paragangliomas 3 |
Stimulate
|
30697874 |
| Prostatic Neoplasms |
Associate
|
31270961 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
31972048 |
| Small Cell Lung Carcinoma |
Associate
|
29020964 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
37401875 |
| Urinary Bladder Neoplasms |
Associate
|
39527939 |
|