| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
36738287 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANDROGENETIC ALOPECIA |
— |
GWAS catalog
|
30573740 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLORECTAL ADENOMA |
— |
GWAS catalog
|
30510241 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal cancer |
Uncertain significance |
ClinVar
GWAS catalog
|
30510241, 31089142, 36539618, 38538606, 38872215 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| CUTANEOUS MELANOMA |
— |
GWAS catalog
|
30429480, 32341527, 34813871 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DESBUQUOIS SYNDROME |
— |
CTD
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial prostate cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FMN1-related disorder |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GOUT |
— |
GWAS catalog
|
33356394 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
23377640 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OROFACIAL CLEFT |
— |
GWAS catalog
|
20023658, 22863734, 41075272 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERINATAL DISEASE |
— |
GWAS catalog
|
40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CANCER |
— |
GWAS catalog
|
37612283, 37945903 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CARCINOMA |
— |
GWAS catalog
|
37612283, 37945903 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| URINARY BLADDER CARCINOMA |
— |
GWAS catalog
|
24662972 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine carcinosarcoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |