| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| AGAMMAGLOBULINEMIA |
— |
GWAS catalog, ClinGen
|
25613900, 26301565, 30250168, ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION |
— |
GWAS catalog
|
39024449, 40050429, 40645996 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FLUTTER |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATTENTION DEFICIT HYPERACTIVITY DISORDER |
— |
GWAS catalog
|
34446935, 35764056 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
GWAS catalog
|
35764056 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISTIC DISORDER |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BRWD1-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CILIARY MOTILITY DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEART FAILURE |
— |
GWAS catalog
|
40195560 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS |
— |
GWAS catalog
|
36889626, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, HIP |
— |
GWAS catalog
|
34450027, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, KNEE |
— |
GWAS catalog
|
34450027 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN FAILURE, PREMATURE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRIMARY CILIARY DYSKINESIA |
— |
ClinGen, Orphanet
ClinGen, Orphanet
|
33389130 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SITUS INVERSUS TOTALIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SUBSTANCE ABUSE |
— |
GWAS catalog
|
34446935 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |