| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| Adrenocortical carcinoma, hereditary |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ALZHEIMER DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTHMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATTENTION DEFICIT HYPERACTIVITY DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDERS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISTIC DISORDER |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR I DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHILDHOOD ONSET ASTHMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CIRRHOSIS OF LIVER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLOR VISION DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ANEURYSM |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEMENTIA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DENTAL ENAMEL HYPOPLASIA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EATING DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIOSIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRAVES OPHTHALMOPATHY |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER NEOPLASMS |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG CANCER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MACROD2-related disorder |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL OR BEHAVIOURAL DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MOOD DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTINODULAR GOITER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE SCLEROSIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NECROTIZING ENTEROCOLITIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-ALCOHOLIC FATTY LIVER DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonpapillary renal cell carcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIPHERAL ARTERIAL DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CANCER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PROSTATE CARCINOMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RETINAL DEGENERATION |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEVERE MYOPIA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPORADIC AMYOTROPHIC LATERAL SCLEROSIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SUBSTANCE ABUSE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TRANSPOSITION OF THE GREAT ARTERIES |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TREATMENT-RESISTANT HYPERTENSION |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| URINARY SYSTEM DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VASCULAR DEMENTIA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VITILIGO |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |