| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
34743297 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLOR VISION DISORDER |
— |
GWAS catalog
|
37359372 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMPLEX NEURODEVELOPMENTAL DISORDER |
— |
ClinGen
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEMENTIA |
— |
GWAS catalog
|
39046104 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KATNAL2-related autism |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KATNAL2-related disorder |
Uncertain significance; Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of urinary bladder |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
CTD, Disgenet
CTD, Disgenet
|
28191889 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
31374203 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |