|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease, Alzheimer's disease or gastroesophageal reflux disease |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate
|
27297947 |
| Alzheimer Disease |
Associate
|
17916554, 29371683, 8128960 |
| Amyloidosis Familial |
Associate
|
27297947, 30665372 |
| Amyloidosis familial visceral |
Associate
|
27297947 |
| Cardiovascular Diseases |
Associate
|
36690263 |
| Cleft Palate |
Associate
|
7668251 |
| Colorectal Neoplasms |
Associate
|
27992526 |
| Coronary Disease |
Associate
|
20498921 |
| Coronary Stenosis |
Associate
|
32327445 |
| COVID 19 |
Associate
|
34232570 |
| Diabetes Mellitus |
Stimulate
|
32327445 |
| Diabetes Mellitus Type 2 |
Associate
|
38003484 |
| Down Syndrome |
Associate
|
25476127 |
| Dyskinesia Familial with Facial Myokymia |
Associate
|
27297947 |
| Dyslipidemias |
Associate
|
31538826, 34921821, 38003484 |
| Guillain Barre Syndrome |
Stimulate
|
38143756 |
| Hemolytic Uremic Syndrome |
Inhibit
|
10412780 |
| Hernia |
Associate
|
23631828 |
| Hyperlipidemias |
Associate
|
16200213, 24646025 |
| Hyperlipoproteinemia Type I |
Inhibit
|
10225669, 3944267 |
| Hyperlipoproteinemia Type I |
Associate
|
10225669, 1479292, 1569385, 23470567, 2592354, 28201738, 29748148, 32205061, 32375710, 3379339, 3680515, 9017511 |
| Hypersensitivity Immediate |
Associate
|
7815420 |
| Hypertriglyceridemia |
Associate
|
10225669, 1569385, 23151256, 26772541, 29910226, 29921298, 30885219, 32115487, 35741823, 38003484, 3944267, 3944271, 6593704 |
| Hypertriglyceridemia |
Stimulate
|
35568684 |
| Hypertriglyceridemic Waist |
Associate
|
2341805, 9017511 |
| Hypoalphalipoproteinemias |
Stimulate
|
26667175 |
| Hypobetalipoproteinemia Familial Apolipoprotein B |
Associate
|
7815420 |
| Hypogonadism |
Associate
|
30665372 |
| Hypoprothrombinemias |
Associate
|
1569385, 28201738 |
| Hypoprothrombinemias |
Inhibit
|
28201738, 3379339 |
| Immunologic Deficiency Syndromes |
Inhibit
|
26772541 |
| Kidney Diseases |
Associate
|
27297947 |
| Kidney Failure Chronic |
Associate
|
22282592 |
| Leukemia Megakaryoblastic Acute |
Associate
|
25476127 |
| Lymphatic Metastasis |
Stimulate
|
37310025 |
| Metabolic Diseases |
Associate
|
36690263, 38003484 |
| Metabolic Syndrome |
Associate
|
28740125 |
| Muscular Dystrophies |
Associate
|
2562820 |
| Myotonic Dystrophy |
Associate
|
1672160, 1895314, 2002492, 2562820, 2575669, 2878705, 8279459 |
| Neoplasms |
Associate
|
36497182, 36690263 |
| Pancreatitis |
Associate
|
10225669, 26772541, 28201738, 36423940, 3944267 |
| Plaque Amyloid |
Associate
|
27297947 |
| Plaque Atherosclerotic |
Associate
|
17916554 |
| Psychotic Disorders |
Associate
|
28252112 |
| Stomach Neoplasms |
Associate
|
36430456 |
| Urinary Bladder Neoplasms |
Associate
|
23631828 |
|