| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| Acute myeloid leukemia |
- |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Combined oxidative phosphorylation defect type 2 |
Uncertain significance; Conflicting classifications of pathogenicity |
ClinVar
ClinVar, GWAS catalog, Orphanet
ClinVar, GWAS catalog, Orphanet
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Combined oxidative phosphorylation deficiency |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
- |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Likely benign; Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL DISEASE |
— |
ClinGen, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL DISEASES |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MRPS16-related disorder |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Likely benign; - |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine carcinosarcoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |