| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CENTRAL NERVOUS SYSTEM CANCER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 74 |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOBLASTOMA MULTIFORME |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEARING IMPAIRMENT |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MSRB3-related disorder |
Uncertain significance; Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SMALL CELL LUNG CARCINOMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBSTRUCTIVE SLEEP APNEA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Papillary renal cell carcinoma type 1 |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SENSORINEURAL HEARING LOSS OF BILATERAL EARS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SLEEP APNEA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |