| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ASTHMA |
— |
CTD, Disgenet
CTD, Disgenet
|
16115819 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS |
— |
Orphanet
|
23936043 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BULLOUS PEMPHIGOID |
— |
GWAS catalog
|
37156394 |
★★★★★★★☆☆☆ 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 |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 56 |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DUPUYTREN CONTRACTURE |
— |
GWAS catalog
|
38172110 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIOSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
20864642 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing impairment |
Uncertain significance; Likely benign |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hereditary breast ovarian cancer syndrome |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
27622933, 34586374 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MELANOMA |
— |
CTD
|
22842228 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Meniere disease |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| MOOD DISORDER |
— |
GWAS catalog
|
27622933 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopia |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| nonsyndromic genetic hearing loss |
— |
ClinGen |
ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS |
— |
GWAS catalog
|
30374069, 30664745, 34450027, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS OF HIP |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, HIP |
— |
CTD, GWAS catalog
CTD, GWAS catalog
|
30374069, 30664745, 34450027, 36889626, 40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, KNEE |
— |
GWAS catalog
|
40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PLEURAL DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
10950882 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Progressive sensorineural hearing impairment |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RESPIRATORY SYSTEM DISEASE |
— |
GWAS catalog
|
38965376 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SENSORINEURAL HEARING LOSS OF BILATERAL EARS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPECIFIC LANGUAGE IMPAIRMENT |
— |
GWAS catalog
|
27016271 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Likely benign; Uncertain significance; Benign |
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 |
| VARICOSE VEINS |
— |
CTD
|
17643059 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VARICOSITY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vertigo |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |