| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
40708016 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ASTHMA |
— |
GWAS catalog
|
25918132 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal dominant non-syndromic intellectual disability |
Uncertain significance |
ClinVar
Disgenet, Orphanet
Disgenet, Orphanet
|
34092786 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| BENIGN ENDOCRINE NEOPLASM |
— |
GWAS catalog
|
40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CARCINOMA |
— |
GWAS catalog
|
35418701 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLORECTAL CANCER |
— |
GWAS catalog
|
36539618 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| complex neurodevelopmental disorder |
— |
ClinGen |
21276947, 29390993, 34092786, ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEMENTIA |
— |
GWAS catalog
|
40708016 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIGESTIVE SYSTEM CANCER |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPILEPSY, ROLANDIC |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GENERALIZED ANXIETY DISORDER |
— |
GWAS catalog
|
35026594 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLAUCOMA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma susceptibility 1 |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPEROPIA |
— |
GWAS catalog
|
33830181 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER NEOPLASMS |
— |
CTD
|
19233941 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myoclonic epilepsy |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Myoclonic epilepsy, progressive, X-linked |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDER |
— |
GenCC
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
34092786 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPEN-ANGLE GLAUCOMA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRICKLE2-associated epilepsy syndrome |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PRICKLE2-related disorder |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Progressive myoclonic epilepsy |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
33907183, 35396580 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
30019117 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBORRHEIC DERMATITIS |
— |
GWAS catalog
|
29203360 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizure |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Self-limited epilepsy with centrotemporal spikes |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
Conflicting classifications of pathogenicity |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS |
— |
GWAS catalog
|
27927641 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
38685053 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VENTRICULAR FIBRILLATION |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |