| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANKYLOSING SPONDYLITIS |
— |
GWAS catalog
|
21743469 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATTENTION DEFICIT HYPERACTIVITY DISORDER |
— |
GWAS catalog
|
23453885 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
GWAS catalog
|
23453885 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BILIARY LIVER CIRRHOSIS |
— |
GWAS catalog
|
34033851 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR DISORDER |
— |
GWAS catalog
|
23453885 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebral ischemia |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC LEFT-SIDED ULCERATIVE COLITIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLITIS, ULCERATIVE |
— |
CTD
|
20228799 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
18587394 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypotonia |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
|
18587394, 39792054 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KIF21B-related disorder |
Uncertain significance; Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KIF21B-related Neurodevelopmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Long QT syndrome |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Lung cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Macrogyria |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
23453885 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Moderate global developmental delay |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental disorder |
Uncertain significance; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
32415109 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRIMARY BILIARY CIRRHOSIS |
— |
GWAS catalog
|
34033851 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
23453885, 26198764, 35396580, 39753749 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULCERATIVE COLITIS |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
20228799 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |