| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Atypical behavior |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| BREAST CANCER |
— |
GWAS catalog
|
29059683, 37380357, 38538606 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CARCINOMA |
— |
GWAS catalog
|
29059683, 35803233, 38538606 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLELITHIASIS |
— |
GWAS catalog
|
34594039, 34651315, 37965154 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLONIC NEOPLASM |
— |
GWAS catalog
|
36077729 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| complex neurodevelopmental disorder |
— |
ClinGen |
25363768, 29463886, 32152250, ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEVELOPMENTAL DISABILITIES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIVERTICULAR DISEASE |
— |
GWAS catalog
|
30177863 |
★★★★★★★☆☆☆ 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 |
| ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER |
— |
GWAS catalog
|
35803233, 37380357 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ESTROGEN-RECEPTOR POSITIVE BREAST CANCER |
— |
GWAS catalog
|
35803233 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FEMALE REPRODUCTIVE SYSTEM DISEASE |
— |
GWAS catalog
|
31488892, 40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GALLSTONES |
— |
GWAS catalog
|
34651315 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| HYPERTROPHIC CARDIOMYOPATHY |
— |
GWAS catalog
|
39966646 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL INFARCTION |
— |
GWAS catalog
|
38072966 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental disorder |
Uncertain significance; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
CTD, Disgenet
CTD, Disgenet
|
28191889 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet, Orphanet
Disgenet, Orphanet
|
32152250 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POLYCYSTIC OVARY SYNDROME |
— |
CTD, Disgenet
CTD, Disgenet
|
21411543 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CANCER |
— |
GWAS catalog
|
19117981, 29892016, 33398198, 37945903 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CARCINOMA |
— |
GWAS catalog
|
19117981, 29892016, 33290408, 33398198, 37945903 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TNRC6B-related complex neurodevelopmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
33290408, 38374256, 39349817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| UTERINE FIBROID |
— |
GWAS catalog
|
21460842, 30194396, 31249589, 31488892, 31649266, 32514122, 34594039, 37544299, 38191017, 40050615, 40069456 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |