| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| CENTRAL NERVOUS SYSTEM CANCER |
— |
GWAS catalog
|
36810956 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHD5-associated Neurodevelopmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHD5-related Neurodevelopmental disorder |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLORECTAL NEOPLASMS |
— |
CTD
|
21278247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
35232999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ 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 |
| Harel-Yoon syndrome |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
|
35232999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROBLASTOMA |
— |
CTD
|
26121086 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet, Orphanet
Disgenet, Orphanet
|
33944996 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OCULAR ANOMALIES, AXONAL NEUROPATHY, DEVELOPMENTAL DELAY SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
|
25420024 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |