| Cerebrooculofacioskeletal Syndrome 1 |
C0220722 |
ERCC1
|
Causal
Pathogenic evidence from ClinVar
|
17273966 |
ClinVar |
|
ERCC2
|
Causal
Pathogenic evidence from ClinVar
|
11443545 |
ClinVar |
|
ERCC5
|
Causal
Pathogenic evidence from ClinVar
|
24700531 |
ClinVar |
|
ERCC6
|
Causal
Pathogenic evidence from ClinVar
|
7264357, 9443879, 11809892, 18784753, 19894250, 21143350, 25356239, 26218421, 26620705, 27004399, 27186691 |
ClinVar |
| CEREBROOCULOFACIOSKELETAL SYNDROME 4 |
C1853100 |
ERCC1
|
Causal
Pathogenic evidence from ClinVar
|
17273966, 23623389 |
ClinVar |
| Cerebrooculofacioskeletal Syndrome 2 |
C1853102 |
ERCC2
|
Causal
Pathogenic evidence from ClinVar
|
9012405, 11443545 |
ClinVar |
| Cerebrooculofacioskeletal Syndrome 3 |
C1851443 |
ERCC5
|
Causal
Pathogenic evidence from ClinVar
|
9096355, 24700531 |
ClinVar |
|
BIVM-ERCC5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
