| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ABO blood group system |
association; Affects; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ABO-related disorder |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANEMIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANEMIA, HEMOLYTIC |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTHMA |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
29679657, 32296059, 35386719, 35472084 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION |
— |
GWAS catalog
|
40645996 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BLOOD COAGULATION DISEASE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CANCER |
— |
GWAS catalog
|
36819030, 37636041 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARCINOMA, OVARIAN EPITHELIAL |
— |
CTD
|
25581431 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIAC EMBOLISM |
— |
GWAS catalog
|
29531354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOEMBOLIC STROKE |
— |
GWAS catalog
|
29531354, 35872910, 36180795 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CATARACT |
— |
GWAS catalog
|
40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEREBROVASCULAR ACCIDENT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLELITHIASIS |
— |
GWAS catalog
|
34594039, 34651315 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC ISCHEMIC HEART DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION |
— |
GWAS catalog
|
38470220 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC VENOUS INSUFFICIENCY |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COR PULMONALE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERIOSCLEROSIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
CTD, GWAS catalog
CTD, GWAS catalog
|
21378990, 24262325, 26343387, 28714975, 29212778, 32469254, 33020668, 35285134, 36187959, 36474045, 37390107, 37705021, 38062574, 39024449, 39537608 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ATHEROSCLEROSIS |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY HEART DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CURLING ULCER |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETES MELLITUS |
— |
GWAS catalog
|
38965376, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETIC NEUROPATHY |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIFFUSE GASTRIC ADENOCARCINOMA |
— |
GWAS catalog
|
37209533 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIGESTIVE SYSTEM DISEASE |
— |
GWAS catalog
|
35173190 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIGESTIVE SYSTEM INFECTIOUS DISORDER |
— |
GWAS catalog
|
32152699 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DISORDER OF PHARYNX |
— |
GWAS catalog
|
36653354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIVERTICULAR DISEASE |
— |
GWAS catalog
|
30177863, 37492107, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIVERTICULAR DISEASES |
— |
CTD
|
30177863 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIVERTICULITIS |
— |
GWAS catalog
|
37196047, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DUODENAL ULCER |
— |
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
|
22387998, 37965154, 38036781 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EDEMA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIAL CANCER |
— |
GWAS catalog
|
37636041 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIOSIS |
— |
GWAS catalog
|
35472084, 36914876, 37544299, 40262193 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GALLSTONES |
— |
GWAS catalog
|
34651315, 37705021 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GASTRIC CANCER |
— |
GWAS catalog
|
30281874, 37209533, 37340002 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GASTRIC CARCINOMA |
— |
GWAS catalog
|
30281874, 37209533, 37340002 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GASTRIC ULCER |
— |
GWAS catalog
|
37965154, 38036781 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLAUCOMA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GOUT |
— |
GWAS catalog
|
39024449, 39406924 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRAFT-VS-HOST DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRAVES DISEASE |
— |
GWAS catalog
|
21841780, 23612905 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEART DISEASE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEART FAILURE |
— |
GWAS catalog
|
31919418, 34594039, 36376295, 36777996, 37429843, 40195560, 41184235 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEMORRHOID |
— |
GWAS catalog
|
33888516, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERLIPIDEMIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSION |
— |
GWAS catalog
|
36187959, 38965376 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSIVE DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOTHYROIDISM |
— |
GWAS catalog
|
39024449, 39266554 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
|
37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INTRACRANIAL THROMBOSIS |
— |
GWAS catalog
|
34459509 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LARGE ARTERY STROKE |
— |
GWAS catalog
|
24262325, 36180795 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
37390107 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MALIGNANT EPITHELIAL TUMOR OF OVARY |
— |
GWAS catalog
|
25134534 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC DISEASE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MIGRAINE DISORDER |
— |
GWAS catalog
|
36808568 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOOD DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL INFARCTION |
— |
GWAS catalog
|
21239051, 26343387, 33532862, 34594039, 38072966, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL ISCHEMIA |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
|
23251661 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPEN-ANGLE GLAUCOMA |
— |
GWAS catalog
|
33627673, 36777996, 37386247, 38382466, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN CARCINOMA |
— |
GWAS catalog
|
25134534, 36819030, 37636041 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATIC CARCINOMA |
— |
GWAS catalog
|
19648918, 25086665, 26098869, 29422604, 37340002 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATIC NEOPLASMS |
— |
CTD
|
19648918, 26098869 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATITIS |
— |
GWAS catalog
|
38491158 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PEPTIC ULCER DISEASE |
— |
GWAS catalog
|
33608531, 38036781, 38102678, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL ARTERIAL DISEASE |
— |
GWAS catalog
|
31285632, 34601942 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL VASCULAR DISEASE |
— |
GWAS catalog
|
33893285, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CANCER |
— |
GWAS catalog
|
39358599 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CARCINOMA |
— |
GWAS catalog
|
39358599 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATIC NEOPLASMS |
— |
CTD
|
17013881 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RESPIRATORY SYSTEM DISEASE |
— |
GWAS catalog
|
36653354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SARCOIDOSIS, PULMONARY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
30395268 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEASONAL ALLERGIC RHINITIS |
— |
GWAS catalog
|
30013184 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severely weakened expression of A on erythrocytes |
Affects; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SLEEP APNEA |
— |
GWAS catalog
|
36525587 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STROKE |
— |
CTD, GWAS catalog
CTD, GWAS catalog
|
24262325, 26908601, 27997041, 29531354, 35185750, 37705021 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Three Vessel Coronary Disease |
Benign; Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| THROMBOPHILIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
28566273, 29358691, 30054458, 30297969, 32499647, 32541925, 34594039, 35551307, 37390107, 38062574, 38374256, 38685053, 39024449, 39379762, 40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULCERATIVE COLITIS |
— |
GWAS catalog
|
37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VASCULAR DISEASE |
— |
GWAS catalog
|
33893285, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VENOUS THROMBOEMBOLISM |
— |
GWAS catalog
|
19278955, 21980494, 22672568, 23650146, 25772935, 26908601, 28373160, 30659681, 31420334, 31676865, 33592630, 34777790, 35285134, 36777996, 38561338 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |