| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AMPHETAMINE-RELATED DISORDERS |
— |
CTD
|
18316681 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTN2-related disorder |
Uncertain significance; Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION |
— |
GWAS catalog
|
36653681 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATTENTION DEFICIT HYPERACTIVITY DISORDER |
— |
GWAS catalog
|
18839057, 32279069 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
GenCC
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISTIC DISORDER |
— |
CTD, Disgenet
CTD, Disgenet
|
19404257 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BARDET-BIEDL SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BARDET-BIEDL SYNDROME 11 |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR DISORDER |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
31043756, 31926635 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR I DISORDER |
— |
GWAS catalog
|
31043756 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CANCER |
— |
GWAS catalog
|
29059683, 32139696, 32887889, 34290314 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CARCINOMA |
— |
GWAS catalog
|
29059683, 32139696, 32887889, 34290314, 35803233 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC OBSTRUCTIVE PULMONARY DISEASE |
— |
GWAS catalog
|
30804561, 37069358 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLONIC NEOPLASM |
— |
GWAS catalog
|
36077729 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMMON MIGRAINE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
GWAS catalog
|
35915156 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CYSTITIS |
— |
GWAS catalog
|
40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIOSIS |
— |
GWAS catalog
|
36914876, 40262193 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ESTROGEN-RECEPTOR POSITIVE BREAST CANCER |
— |
GWAS catalog
|
35803233 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEARING LOSS |
— |
GWAS catalog
|
34847940 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEMORRHOID |
— |
GWAS catalog
|
33888516 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD |
— |
GWAS catalog
|
28000841 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INSOMNIA |
— |
GWAS catalog
|
35835914 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INTELLECTUAL DISABILITY |
— |
Disgenet, GenCC
Disgenet, GenCC
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
29700475, 29942085, 30718901, 31926635, 33479212, 34586374, 34924174, 35026594, 37464041, 38177345 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MIGRAINE DISORDER |
— |
GWAS catalog
|
22683712, 23793025, 27182965, 27322543, 32632093, 34294844, 35115687, 36939796, 39789286 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MIGRAINE WITHOUT AURA |
— |
CTD
|
22683712 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOOD DISORDER |
— |
GWAS catalog
|
29942085 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MORBID OBESITY |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOPATHY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROTIC DISORDER |
— |
GWAS catalog
|
29942085 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
|
23251661 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS |
— |
GWAS catalog
|
30374069, 30664745, 34450027, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS OF HIP |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, HIP |
— |
CTD, GWAS catalog
CTD, GWAS catalog
|
30374069, 30664745, 34450027, 36376028, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, KNEE |
— |
GWAS catalog
|
40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATIC CARCINOMA |
— |
GWAS catalog
|
28470677 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RESTLESS LEGS SYNDROME |
— |
GWAS catalog
|
38839884 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROTATOR CUFF TEAR |
— |
GWAS catalog
|
33482370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcotubular myopathy |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
30019117 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
32541925, 38374256, 39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine carcinosarcoma |
Uncertain significance; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| UTERINE FIBROID |
— |
GWAS catalog
|
40050615 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VENOUS THROMBOEMBOLISM |
— |
GWAS catalog
|
23509962 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |