| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
39998322 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTHMA |
— |
GWAS catalog
|
25918132 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION |
— |
GWAS catalog
|
40645996, 41022758 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATTENTION DEFICIT HYPERACTIVITY DISORDER |
— |
GWAS catalog
|
32279069, 34446935 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BASAL CELL CARCINOMA |
— |
GWAS catalog
|
27539887, 31174203, 33549134, 36496446, 38182794, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BILIARY TRACT CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BNC2-related disorder |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CANCER |
— |
GWAS catalog
|
36819030 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARCINOMA, BASAL CELL |
— |
CTD
|
36428691 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CERVICAL CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC OBSTRUCTIVE PULMONARY DISEASE |
— |
GWAS catalog
|
37069358 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CLEFT PALATE |
— |
CTD, Disgenet
CTD, Disgenet
|
19706529 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLORECTAL CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL POSTERIOR URETHRAL VALVES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORNEAL ASTIGMATISM |
— |
GWAS catalog
|
23322567 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
GWAS catalog
|
30525989 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CRANIOFACIAL ABNORMALITIES |
— |
CTD, Disgenet
CTD, Disgenet
|
19706529 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CUTANEOUS MELANOMA |
— |
GWAS catalog
|
34813871, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CUTANEOUS SQUAMOUS CELL CARCINOMA |
— |
GWAS catalog
|
27424798, 32041948, 38182794 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIAL CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ESOPHAGEAL CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GASTRIC CANCER |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Germ cell tumor of testis |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLAUCOMA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GOUT |
— |
GWAS catalog
|
31578528 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEPATOCELLULAR CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERLIPIDEMIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypotension |
Likely benign; not provided; Benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INSOMNIA |
— |
GWAS catalog
|
35835914 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KERATINOCYTE CARCINOMA |
— |
GWAS catalog
|
31174203 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG ADENOCARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Benign |
ClinVar
GWAS catalog
|
33893285 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| LUNG CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
29662059, 30643256, 30718901, 32231276, 33479212, 34586374, 34924174, 35898629, 36750733, 37985818, 38177345 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MALIGNANT EPITHELIAL TUMOR OF OVARY |
— |
GWAS catalog
|
25581431, 28346442 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC DISEASE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROTIC DISORDER |
— |
GWAS catalog
|
30643256 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-HODGKINS LYMPHOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-MELANOMA SKIN CARCINOMA |
— |
GWAS catalog
|
29739929, 34290314 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SMALL CELL LUNG CARCINOMA |
— |
GWAS catalog
|
26829030, 31174203 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonpapillary renal cell carcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPEN-ANGLE GLAUCOMA |
— |
GWAS catalog
|
37386247, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, KNEE |
— |
GWAS catalog
|
36889626, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN CANCER |
— |
GWAS catalog
|
19648919, 23535730, 33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN CARCINOMA |
— |
GWAS catalog
|
19648919, 23535730, 23544013, 25581431, 28346442, 33893285, 36819030 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN ENDOMETRIOID CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN NEOPLASMS |
— |
CTD
|
20852632 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN SEROUS CARCINOMA |
— |
GWAS catalog
|
28346442, 33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATIC CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CARCINOMA |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
26211971, 30395268, 31417091 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBORRHEIC KERATOSIS |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SKIN CANCER |
— |
GWAS catalog
|
34594039, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SKIN DISEASE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SKIN NEOPLASM |
— |
GWAS catalog
|
34594039, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SLEEP APNEA |
— |
GWAS catalog
|
36525587 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SQUAMOUS CELL CARCINOMA |
— |
GWAS catalog
|
26829030, 31174203, 36496446, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SQUAMOUS CELL LUNG CARCINOMA |
— |
GWAS catalog
|
26829030, 31174203, 33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SUBSTANCE ABUSE |
— |
GWAS catalog
|
34446935 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TREATMENT-RESISTANT HYPERTENSION |
— |
GWAS catalog
|
30237584 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
38374256, 39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |