|
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 |
| Cystic Fibrosis |
cystic fibrosis |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
23099808, 32648688 |
| Adenoma |
Associate
|
10666389, 37565794 |
| Adenomatous Polyposis Coli |
Associate
|
37565794 |
| Asthma |
Associate
|
28275137, 39239252 |
| Bacterial Infections |
Associate
|
31393983 |
| Breast Neoplasms |
Associate
|
18221536, 18614350, 23592399, 32235022, 33838601 |
| Carcinogenesis |
Associate
|
10666389, 15729073, 25299082, 31171910 |
| Carcinoma |
Associate
|
31171910 |
| Carcinoma Non Small Cell Lung |
Associate
|
24625834, 35141051 |
| Carcinoma Pancreatic Ductal |
Associate
|
24476519 |
| Cardiovascular Diseases |
Associate
|
34639156 |
| Cholangiocarcinoma |
Associate
|
16868542 |
| Colitis Ulcerative |
Stimulate
|
34394073 |
| Colonic Neoplasms |
Stimulate
|
17201906 |
| Colonic Neoplasms |
Associate
|
26673628 |
| Colonic Polyps |
Associate
|
10666389 |
| Colorectal Neoplasms |
Associate
|
10666389, 16755296, 26673628, 26993598, 34394073, 37535601, 37816733 |
| Communicable Diseases |
Associate
|
39239252 |
| COVID 19 |
Associate
|
37302069 |
| Crohn Disease |
Associate
|
17525800, 20587550, 21559399, 25706391, 31393983 |
| Crohn Disease |
Stimulate
|
24326999, 34394073 |
| Diabetes Mellitus |
Associate
|
36360783 |
| Duodenal Neoplasms |
Associate
|
37565794 |
| Fetal Alcohol Spectrum Disorders |
Associate
|
31393983 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Stimulate
|
18614350 |
| Hypoxia |
Stimulate
|
39674878 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
22761659 |
| Infections |
Stimulate
|
17525800, 25706391 |
| Inflammation |
Associate
|
26673628, 27579896, 39239252 |
| Inflammatory Bowel Diseases |
Inhibit
|
19637360 |
| Inflammatory Bowel Diseases |
Associate
|
21559399, 34394073 |
| Leukemia |
Associate
|
20063526 |
| Lung Diseases |
Stimulate
|
22037359, 26374831 |
| Lung Neoplasms |
Associate
|
20090913, 24625834 |
| Lymphatic Metastasis |
Associate
|
15729073 |
| Lymphatic Metastasis |
Stimulate
|
16868542, 25299082 |
| Mohr Tranebjaerg syndrome |
Stimulate
|
32648688 |
| Multiple Myeloma |
Associate
|
23603913 |
| Neoplasm Metastasis |
Associate
|
15729073, 17406026, 18614350, 27993815, 33379338, 38433022 |
| Neoplasms |
Associate
|
16868542, 17201906, 18614350, 19411761, 20090913, 22037359, 23603913, 25299082, 27959387, 28604612, 28731711, 28883649, 32816956, 33838601, 35141051, 35302657, 37349126, 39239252 View all (3 more) |
| Ovarian Neoplasms |
Associate
|
35302657 |
| Pancreatic Neoplasms |
Associate
|
15729073, 19411761, 34321959 |
| Pancreatitis Chronic |
Associate
|
24476519 |
| Parkinson Disease |
Associate
|
39239252 |
| Philadelphia Chromosome |
Associate
|
37819686 |
| Philadelphia Chromosome |
Stimulate
|
40076750 |
| Polyps |
Associate
|
10666389 |
| Precancerous Conditions |
Associate
|
31171910 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
20063526 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
20063526, 36629681, 37819686, 38037221, 40076750 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
21365622 |
| Premature Birth |
Associate
|
26374831 |
| Prostatic Neoplasms |
Associate
|
17201906 |
| Psoriasis |
Associate
|
39239252 |
| Pulmonary Disease Chronic Obstructive |
Stimulate
|
26374831 |
| Pyruvate Carboxylase Deficiency Disease |
Associate
|
34321959 |
| Respiratory Insufficiency |
Associate
|
26374831 |
| Respiratory Tract Neoplasms |
Stimulate
|
26374831 |
| Stomach Neoplasms |
Associate
|
25299082, 28883649, 32816956 |
| Stomach Neoplasms |
Stimulate
|
39674878 |
| Uterine Cervical Dysplasia |
Associate
|
15729073, 31171910 |
| Uterine Cervical Neoplasms |
Stimulate
|
39346086 |
|