|
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 |
| Colorectal Cancer |
hereditary nonpolyposis colon cancer |
N/A |
N/A |
GenCC |
| Cystic Fibrosis |
cystic fibrosis |
N/A |
N/A |
ClinVar |
| Fibromuscular Dysplasia |
Fibromuscular dysplasia |
N/A |
N/A |
GWAS |
| Hypercholanemia |
Hypercholanemia, familial 1 |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate
|
40526606 |
| Adenocarcinoma |
Associate
|
12915882 |
| Adenocarcinoma of Lung |
Associate
|
37965333 |
| Adenoma |
Associate
|
18093316 |
| Airway Obstruction |
Associate
|
31348278 |
| Alzheimer Disease |
Associate
|
38104851 |
| Asthma |
Associate
|
17711870, 18439551, 22610343 |
| Asthma Exercise Induced |
Associate
|
22610343 |
| Bone Diseases |
Associate
|
19657367 |
| Brain Neoplasms |
Associate
|
24260161 |
| Breast Neoplasms |
Associate
|
17416769, 18423013, 22564471 |
| Carcinogenesis |
Associate
|
17695473, 22524818, 26295053 |
| Carcinoma Hepatocellular |
Associate
|
7892276 |
| Carcinoma Squamous Cell |
Associate
|
10732758 |
| Chromosome Aberrations |
Associate
|
11849215 |
| Cognition Disorders |
Associate
|
21734345 |
| Colorectal Neoplasms |
Associate
|
10408710, 17695473, 18093316, 20886582, 25058500, 28018104 |
| Crohn Disease |
Associate
|
12631667 |
| Death |
Associate
|
37965333 |
| Emphysema |
Associate
|
10853854, 17363767, 17686149, 21734345 |
| Epilepsy |
Associate
|
26555147, 31164100 |
| Esophageal Neoplasms |
Associate
|
12854128, 19360286 |
| Esophagitis |
Associate
|
12854128 |
| Fibrosis |
Associate
|
34428046 |
| Follicular Cyst |
Associate
|
23651475 |
| Heart Defects Congenital |
Associate
|
31348278 |
| Hepatitis C |
Associate
|
17296285 |
| Hepatitis C Chronic |
Associate
|
17296285 |
| Hypercholanemia Familial |
Associate
|
12878321, 25992604 |
| Hypospadias |
Associate
|
32728162 |
| Hypoxia |
Associate
|
19017876, 30867055 |
| Insulin Resistance |
Associate
|
34342583 |
| Intrahepatic Cholestasis of Pregnancy |
Associate
|
34638773 |
| Leukemia Myeloid Acute |
Associate
|
39300580 |
| Lipodystrophy Familial Partial |
Associate
|
34342583 |
| Lung Diseases |
Associate
|
21734345 |
| Lung Neoplasms |
Associate
|
10601573, 12915882, 15901990, 18298806, 37965333 |
| Lymphoma |
Associate
|
23651475, 33883344 |
| Lymphoma B Cell |
Associate
|
23651475, 33883344 |
| Lymphoma Large B Cell Diffuse |
Associate
|
21228414, 23651475 |
| Macular Degeneration |
Associate
|
15774926 |
| Medulloblastoma |
Associate
|
22994552 |
| Multiple Myeloma |
Associate
|
19657367 |
| Multiple Organ Failure |
Associate
|
34342583 |
| Neoplasms |
Associate
|
10408710, 12747973, 17548691, 22253860, 22524818, 25058500, 34428046 |
| Neoplasms Multiple Primary |
Associate
|
22253860 |
| Non alcoholic Fatty Liver Disease |
Associate
|
34428046 |
| Ovarian Neoplasms |
Stimulate
|
21480392 |
| Ovarian Neoplasms |
Associate
|
21480392 |
| Pancreatic Neoplasms |
Associate
|
22301281 |
| Polycystic Ovary Syndrome |
Associate
|
12798882, 24505354 |
| Polyposis Syndrome Hereditary Mixed 1 |
Associate
|
18093316 |
| Pre Eclampsia |
Associate
|
11283205 |
| Precancerous Conditions |
Associate
|
12854128, 17296285 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
23433810 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
11849215 |
| Prostatic Neoplasms |
Associate
|
14719475 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
10601573, 10639528, 15218992, 15702235, 15817713, 16456143, 17363767, 18461673, 19017876, 19111454, 20525719, 21044285, 21309732, 21734345, 22118311, 22976395, 25999707, 27193053, 27421065, 34707353 View all (5 more) |
| Pulmonary Disease Chronic Obstructive Severe Early Onset |
Associate
|
19111454 |
| Respiratory Tract Diseases |
Associate
|
17711870 |
| Seizures |
Associate
|
31164100 |
| Skin Neoplasms |
Associate
|
26295053 |
| Smoke Inhalation Injury |
Associate
|
18298806, 20886582 |
| Stevens Johnson Syndrome |
Associate
|
24861996, 34350628 |
| Tobacco Use Disorder |
Associate
|
34707353 |
| Urinary Bladder Neoplasms |
Associate
|
19252927, 22524818 |
|