| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
39998322 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISTIC DISORDER |
— |
CTD, Disgenet
CTD, Disgenet
|
11920157, 20442744 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
|
17847003, 17847003 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BELL'S PALSY |
— |
GWAS catalog
|
33602968 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR DISORDER |
— |
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
|
18332879, 31926635 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST NEOPLASMS |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARCINOMA, NON-SMALL-CELL LUNG |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CAROTID ARTERY DISEASE |
— |
GWAS catalog
|
37479695 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CENTRAL NERVOUS SYSTEM CANCER |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEREBRAL AMYLOID ANGIOPATHY |
— |
GWAS catalog
|
34020725 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
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 |
| COLON CARCINOMA |
— |
GWAS catalog
|
35984985 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLONIC NEOPLASMS |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLOR VISION DISORDER |
— |
GWAS catalog
|
37359372 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLORECTAL CANCER |
— |
GWAS catalog
|
36077729, 38411962 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| complex neurodevelopmental disorder |
— |
ClinGen |
28180184, 34375587, ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEMENTIA |
— |
GWAS catalog
|
39046104 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEPRESSION, BIPOLAR |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental disorder |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIOSIS |
— |
GWAS catalog
|
34594039 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ESOPHAGEAL NEOPLASMS |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLAUCOMA |
— |
GWAS catalog
|
34834521 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOBLASTOMA |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLIOMA |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRIK2-related disorder |
Uncertain significance; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HUNTINGTON DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
|
36077729 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INSOMNIA |
— |
GWAS catalog
|
35835914 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 |
— |
Disgenet, HPO
Disgenet, HPO
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| IRRITABLE BOWEL SYNDROME |
— |
GWAS catalog
|
29626450 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LATE-ONSET ALZHEIMER'S DISEASE |
— |
GWAS catalog
|
27770636 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lip and oral cavity carcinoma |
association |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER NEOPLASMS |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LYMPHATIC METASTASIS |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
30718901, 31926635, 31969693, 34924174 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 |
— |
CTD
|
17847003 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MIXED BIPOLAR I DISORDER |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOOD DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NERVOUS SYSTEM DISEASE |
— |
GWAS catalog
|
40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet, Orphanet
Disgenet, Orphanet
|
34375587 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
|
23251661 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBSESSIVE-COMPULSIVE DISORDER |
— |
GWAS catalog
|
22889921 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OVARIAN NEOPLASMS |
— |
CTD
|
30705370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
CTD, Disgenet
CTD, Disgenet
|
18923069 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
30019117 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TREATMENT-RESISTANT HYPERTENSION |
— |
GWAS catalog
|
38162683 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine carcinosarcoma |
Benign; Likely benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VASCULAR DEMENTIA |
— |
GWAS catalog
|
39046104 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |