| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ANGLE CLOSURE GLAUCOMA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTROCYTOMA |
— |
CTD
|
11223164 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
CTD
|
35663546 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BARRETT ESOPHAGUS |
— |
CTD, Disgenet
CTD, Disgenet
|
15387324 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARCINOMA, HEPATOCELLULAR |
— |
CTD
|
11896611, 9932610 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARCINOMA, SQUAMOUS CELL |
— |
CTD
|
21273587 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHIES |
— |
CTD, Disgenet
CTD, Disgenet
|
16109756, 18083897 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COPPER-OVERLOAD CIRRHOSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
22879914 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 39 |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
|
19576567 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETIC NEUROPATHIES |
— |
CTD, Disgenet
CTD, Disgenet
|
26000320 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GOUT |
— |
GWAS catalog
|
22179738, 32238385 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRAFT-VS-HOST DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing impairment |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| HEARING LOSS, AUTOSOMAL RECESSIVE |
— |
Disgenet
|
20301607, 24148127 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HGF-related disorder |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERBILIRUBINEMIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERBILIRUBINEMIA, HEREDITARY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSIVE DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KERATOCONUS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEUKEMIA, MYELOID, ACUTE |
— |
CTD
|
22683780 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER CIRRHOSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
17097021 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER FAILURE, ACUTE |
— |
CTD, Disgenet
CTD, Disgenet
|
12479984 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER NEOPLASMS |
— |
CTD
|
8807143 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG DISEASES, INTERSTITIAL |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MESOTHELIOMA, MALIGNANT |
— |
CTD
|
25162674 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE MYELOMA |
— |
GWAS catalog
|
30213928 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL INFARCTION |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL ISCHEMIA |
— |
CTD, Disgenet
CTD, Disgenet
|
12447174 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOPIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROBLASTOMA |
— |
CTD
|
16051641 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| nonsyndromic genetic hearing loss |
— |
ClinGen |
ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonsyndromic Hearing Loss, Mixed |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OLIGODENDROGLIOMA |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATITIS |
— |
CTD, Disgenet
CTD, Disgenet
|
14751415 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PARKINSON DISEASE |
— |
CTD, Disgenet
CTD, Disgenet
|
16791285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRIMARY CARDIOMYOPATHY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CANCER |
— |
GWAS catalog
|
37945903 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CARCINOMA |
— |
GWAS catalog
|
37945903 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PULMONARY FIBROSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
16324872 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SENSORINEURAL HEARING LOSS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SENSORINEURAL HEARING LOSS OF BILATERAL EARS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SYSTEMIC SCLERODERMA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| THROMBOSIS |
— |
CTD
|
15367830 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VASCULAR DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
15071489 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VITILIGO |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |