| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMERS DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANKYLOSING SPONDYLITIS |
— |
GWAS catalog
|
26974007, 30946743 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE DISEASES |
— |
CTD
|
22536412, 2545777, 26590112 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
— |
CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
|
15877736, 17674358, 20301287, 21885602, 22983577, 7540117, 8929361, 10709732, 20360470, 39060684 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1, AUTOSOMAL DOMINANT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2B |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Behcet disease |
— |
Orphanet
|
26136352 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BEHCET SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHIES |
— |
CTD, Disgenet
CTD, Disgenet
|
10716473, 10920071, 17943461 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, DILATED |
— |
CTD, Disgenet
CTD, Disgenet
|
17943461 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC LYMPHOCYTIC LEUKEMIA |
— |
GWAS catalog
|
23770605, 24292274, 26956414, 28165464, 39024449, 40883272 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CYSTIC FIBROSIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETES MELLITUS, NON-INSULIN-DEPENDENT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETES MELLITUS, TYPE 2 |
— |
CTD
|
16123366 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Conflicting classifications of pathogenicity; Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FAS-related autoimmune lymphoproliferative immune disorder |
— |
ClinGen |
ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLOMERULONEPHRITIS |
— |
CTD, Disgenet
CTD, Disgenet
|
21880982, 36999444 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEMATOLOGIC DISEASES |
— |
CTD
|
15877736 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEMATOLOGICAL DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatoblastoma |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| JUVENILE IDIOPATHIC ARTHRITIS |
— |
GWAS catalog
|
33106285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KIDNEY DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
38555047 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEUKEMIA, MYELOID, ACUTE |
— |
CTD
|
7579353 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEUKOCYTE DISORDERS |
— |
CTD, Disgenet
CTD, Disgenet
|
38555047 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER FAILURE, ACUTE |
— |
CTD, Disgenet
CTD, Disgenet
|
12828076 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG ADENOCARCINOMA |
— |
GWAS catalog
|
19654303 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG CANCER |
— |
GWAS catalog
|
19654303 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG CARCINOMA |
— |
GWAS catalog
|
19654303 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG NEOPLASMS |
— |
CTD
|
26192916 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUPUS ERYTHEMATOSUS, SYSTEMIC |
— |
CTD, Disgenet
CTD, Disgenet
|
36999444 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUPUS NEPHRITIS |
— |
CTD, Disgenet
CTD, Disgenet
|
33632240, 38555047 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LYMPHOID LEUKEMIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LYMPHOMA, LARGE B-CELL, DIFFUSE |
— |
CTD
|
26192916 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LYMPHOPROLIFERATIVE SYNDROME 1 |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOYAMOYA DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE SCLEROSIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE SCLEROSIS, RELAPSING-REMITTING |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYASTHENIA GRAVIS |
— |
CTD, Disgenet
CTD, Disgenet
|
15169653 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NECROSIS |
— |
CTD
|
15664267 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-ALCOHOLIC FATTY LIVER DISEASE |
— |
CTD, Disgenet
CTD, Disgenet
|
23127599 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NONALCOHOLIC STEATOHEPATITIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
|
23251661 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS |
— |
GWAS catalog
|
23603761 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE |
— |
GWAS catalog
|
23603761 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRIMARY CARDIOMYOPATHY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROTEINURIA |
— |
CTD
|
26590112, 33632240, 36999444 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RHEUMATOID ARTHRITIS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCLEROSING CHOLANGITIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SELECTIVE IGA DEFICIENCY DISEASE |
— |
GWAS catalog
|
27723758 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPLENIC DISEASES |
— |
CTD, Disgenet
CTD, Disgenet
|
38555047 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SQUAMOUS CELL CARCINOMA |
— |
GWAS catalog
|
19654303 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Squamous cell carcinoma of the head and neck |
- |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS |
— |
GWAS catalog
|
23603761 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULCERATIVE COLITIS |
— |
GWAS catalog
|
26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| URINARY BLADDER NEOPLASMS |
— |
CTD
|
9070496 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| UVEOMENINGOENCEPHALITIC SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VENTRICULAR DYSFUNCTION, LEFT |
— |
CTD
|
11809923 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VOGT-KOYANAGI-HARADA DISEASE |
— |
Orphanet
|
26136352 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |