| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| Acute myeloid leukemia |
Conflicting classifications of pathogenicity; Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BDP1-related disorder |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 112 |
— |
Disgenet, HPO
Disgenet, HPO
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing impairment |
Uncertain significance |
ClinVar
Disgenet
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| HEARING LOSS, AUTOSOMAL RECESSIVE |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing loss, autosomal recessive 112 |
Uncertain significance; Benign; Likely benign; not provided; Conflicting classifications of pathogenicity |
ClinVar
ClinVar, GenCC
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hepatocellular carcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonpapillary renal cell carcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
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 |
| Waardenburg syndrome |
Conflicting classifications of pathogenicity |
ClinVar
Disgenet
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |