| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Uncertain significance; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual disability |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Uncertain significance; Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL DISEASE |
— |
ClinGen, GWAS catalog
|
26189817, 29021354, 35342985, 35460901 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL DISEASES |
— |
Disgenet, ClinGen
|
ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY |
— |
CTD, HPO
CTD, HPO
|
26189817 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Uncertain significance; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TRMT5-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ 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 |