| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AMYOTROPHIC LATERAL SCLEROSIS |
— |
GWAS catalog
|
26580837 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANKYLOSING SPONDYLITIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTROCYTOMA |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA |
— |
GWAS catalog
|
38616254 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BENIGN NEOPLASM |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BONE DISEASE |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CENTRAL NERVOUS SYSTEM CANCER |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLORECTAL CANCER |
— |
GWAS catalog
|
36539618, 38872215 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
23128233, 26192919, 26974007, 28067908, 33608531, 37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DUPUYTREN CONTRACTURE |
— |
GWAS catalog
|
21732829, 28886342, 37315093, 38172110, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOBLASTOMA MULTIFORME |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOMA |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
|
23128233, 26192919, 28067908, 33608531, 37156999, 38616254 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INTELLECTUAL DISABILITY |
— |
CTD
|
21937992 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL RETARDATION |
— |
Disgenet
|
21937992 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOYAMOYA DISEASE |
— |
GWAS catalog
|
37365321 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDER |
— |
Disgenet
|
21937992 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOPOROSIS |
— |
GWAS catalog
|
34594039, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCLEROSING CHOLANGITIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULCERATIVE COLITIS |
— |
GWAS catalog
|
19915572, 21297633, 23128233, 26192919, 26974007, 28067908, 33608531, 37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| UTERINE FIBROID |
— |
GWAS catalog
|
40050615 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ZBTB40-related disorder |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |