| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ANKYLOSING SPONDYLITIS |
— |
GWAS catalog
|
23749187, 26974007, 30946743 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AORTIC ARCH SYNDROMES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ARTHRITIS, PSORIATIC |
— |
CTD, Disgenet
CTD, Disgenet
|
20953189 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASBESTOSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
12160931 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTHMA |
— |
CTD, Disgenet
CTD, Disgenet
|
19800904 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATHEROSCLEROSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
20720404 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATOPIC ECZEMA |
— |
GWAS catalog
|
25574825 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
CTD
|
35663546 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISTIC DISORDER |
— |
CTD, Disgenet
CTD, Disgenet
|
18563708 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BILIARY CIRRHOSIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BONNEVIE-ULLRICH SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BRAIN EDEMA |
— |
CTD
|
19374494 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BRAIN INJURIES, TRAUMATIC |
— |
CTD
|
28642177 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BRAIN ISCHEMIA |
— |
CTD, Disgenet
CTD, Disgenet
|
17394460, 9778187 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST NEOPLASMS |
— |
CTD
|
15631943 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BRONCHIAL DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
15774269 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOVASCULAR ABNORMALITIES |
— |
CTD, Disgenet
CTD, Disgenet
|
19587355 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEREBROVASCULAR ACCIDENT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLANGIOCARCINOMA |
— |
CTD
|
16818635 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLANGITIS, SCLEROSING |
— |
CTD, Disgenet
CTD, Disgenet
|
12612912 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLESTASIS |
— |
CTD, Disgenet
CTD, Disgenet
|
12612912, 20626112 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLESTASIS, EXTRAHEPATIC |
— |
CTD, Disgenet
CTD, Disgenet
|
30026087 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC OBSTRUCTIVE AIRWAY DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLITIS |
— |
CTD, Disgenet
CTD, Disgenet
|
17449036, 8698225 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLONIC NEOPLASMS |
— |
CTD
|
16105666, 21081470 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGESTIVE HEART FAILURE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CURLING ULCER |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEPRESSIVE DISORDER |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETES MELLITUS, NON-INSULIN-DEPENDENT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETES MELLITUS, TYPE 2 |
— |
CTD
|
16959961 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DUODENAL ULCER |
— |
CTD, Disgenet
CTD, Disgenet
|
12481160, 17045617 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EMPHYSEMA |
— |
CTD
|
24465666 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ESOPHAGEAL NEOPLASMS |
— |
CTD
|
15264214 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FOCAL GLOMERULOSCLEROSIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GASTRIC ULCER |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEART FAILURE |
— |
CTD, Disgenet
CTD, Disgenet
|
19168511 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEPATIC INSUFFICIENCY |
— |
CTD
|
30026087 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEPATOMEGALY |
— |
CTD
|
30026087 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERALGESIA |
— |
CTD
|
17989504, 19300402 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPEREMIA |
— |
CTD, Disgenet
CTD, Disgenet
|
12646421 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSION |
— |
CTD
|
18605955, 25101153, 27292124 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSIVE DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY SKIN DISEASE |
— |
GWAS catalog
|
25574825 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INTESTINAL DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
11713966 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KIDNEY DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
18441258 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KIDNEY FAILURE, ACUTE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEWY BODY DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER CIRRHOSIS, BILIARY |
— |
CTD
|
30026087 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
19784758 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG NEOPLASMS |
— |
CTD
|
12460898, 22369883 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
34586374 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malaria, resistance to |
protective |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malaria, severe, resistance to |
protective |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malaria, susceptibility to |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MARFAN SYNDROME |
— |
CTD, Disgenet
CTD, Disgenet
|
25101153 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL DEPRESSION |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
16157314 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL INFARCTION |
— |
CTD, Disgenet
CTD, Disgenet
|
10090345, 11489778 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NECROSIS |
— |
CTD
|
10620138, 10909967 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NOS2-related disorder |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PARKINSON DISEASE, SECONDARY |
— |
CTD
|
25634431 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRIMARY BILIARY CHOLANGITIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS |
— |
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
|
20953189, 23143594, 25574825, 25903422, 26626624, 26974007, 33385400, 38757301, 39024449, 39883516, 39885523 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS VULGARIS |
— |
GWAS catalog
|
26626624, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIATIC ARTHRITIS |
— |
GWAS catalog
|
26626624, 30552173, 35507331, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PULMONARY DISEASE, CHRONIC OBSTRUCTIVE |
— |
CTD
|
21843929 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| repeat number of microsatellite |
association |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCLEROSING CHOLANGITIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SECONDARY PARKINSON DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEIZURES |
— |
CTD
|
19559095 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEPSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
17138957, 20035746 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STATUS EPILEPTICUS |
— |
CTD, Disgenet
CTD, Disgenet
|
20149694 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STEVENS-JOHNSON SYNDROME |
— |
CTD, Disgenet
CTD, Disgenet
|
10620138 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STROKE |
— |
CTD
|
20083630 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SUBSTANCE WITHDRAWAL SYNDROME |
— |
CTD
|
19751225 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TURNER SYNDROME |
— |
CTD, Disgenet
CTD, Disgenet
|
25101153 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
33385400 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULCERATIVE COLITIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| URETERAL OBSTRUCTION |
— |
CTD
|
26207612 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |