| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| Acute myeloid leukemia |
Likely benign; Benign; - |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTHMA |
— |
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
|
19198610, 24388013, 29083406, 29785011, 30552067, 30929738, 31361310, 31619474, 31669095, 33893285, 36329257, 36344522 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATOPIC ASTHMA |
— |
GWAS catalog
|
31669095 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATOPIC ECZEMA |
— |
GWAS catalog
|
34116867 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CENTRAL NERVOUS SYSTEM CANCER |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHILDHOOD ONSET ASTHMA |
— |
GWAS catalog
|
30929738, 31669095 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely 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 |
| Colon adenocarcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal cancer |
Benign; Likely benign |
ClinVar
GWAS catalog
|
34794066 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| EOSINOPHILIC ESOPHAGITIS |
— |
GWAS catalog
|
25407941, 34506852 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial pancreatic carcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLAUCOMA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma 1, open angle, G |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
ClinVar
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
|
15677485, 16723468, 17960130, 18172102, 19150991, 19347049, 21931130, 24825108, 28658128, 29104481, 31367175 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| GLAUCOMA, OPEN-ANGLE |
— |
CTD, Disgenet
CTD, Disgenet
|
21059646 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOBLASTOMA MULTIFORME |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOMA |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Benign; Likely benign; - |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| High myopia |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NASAL CAVITY POLYP |
— |
GWAS catalog
|
36653354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NASAL DISORDER |
— |
GWAS catalog
|
36653354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonpapillary renal cell carcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian cancer |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign; Benign; - |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIODONTITIS |
— |
GWAS catalog
|
24024966 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Primary open angle glaucoma |
Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| RESPIRATORY SYSTEM DISEASE |
— |
GWAS catalog
|
38965376 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RHINITIS |
— |
GWAS catalog
|
36653354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEASONAL ALLERGIC RHINITIS |
— |
GWAS catalog
|
24388013, 30013184, 33893285, 34594039, 39789286 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEVERE MYOPIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SQUAMOUS CELL LUNG CARCINOMA |
— |
GWAS catalog
|
40341939 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher syndrome type 2C |
Benign; Likely 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; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| WDR36-related disorder |
Benign; Likely benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |