| 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
|
30514930 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
31155615 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BLEEDING DISORDER DUE TO P2RY12 DEFECT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEVELOPMENTAL DISABILITIES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental disorder |
Likely benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIGESTIVE SYSTEM DISEASE |
— |
GWAS catalog
|
35173190 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIVERTICULAR DISEASE |
— |
GWAS catalog
|
30177863, 37492107 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INSOMNIA |
— |
GWAS catalog
|
30804565, 35835914 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| IRRITABLE BOWEL SYNDROME |
— |
GWAS catalog
|
39620219 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MED12L-related disorder |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MED12L-related neurodevelopmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Orphanet
|
31155615 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PARKINSON DISEASE |
— |
GWAS catalog
|
31701892, 32201043, 38155330 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| THROMBOCYTOPENIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |