| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANKYLOSING SPONDYLITIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
GWAS catalog
|
28540026 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE DISEASE |
— |
GWAS catalog
|
32534018 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE THYROIDITIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CELIAC DISEASE |
— |
GWAS catalog
|
39789286 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC INTERSTITIAL CYSTITIS |
— |
GWAS catalog
|
39620209 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial pancreatic carcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOTHYROIDISM |
— |
GWAS catalog
|
38368726 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE SCLEROSIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Proteasome-associated autoinflammatory syndrome 3 |
Benign; Conflicting classifications of pathogenicity |
ClinVar
Disgenet, GenCC
Disgenet, GenCC
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| PSMB9-related disorder |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
39885523 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RHEUMATOID ARTHRITIS |
— |
GWAS catalog
|
36762574, 37377963, 38368726, 39620209 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
28540026 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SYSTEMIC LUPUS ERYTHEMATOSUS |
— |
GWAS catalog
|
32771030 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 1 DIABETES MELLITUS |
— |
GWAS catalog
|
37377963 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VITILIGO |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |