| Shwachman-Diamond syndrome |
811 |
DNAJC21
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SBDS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SRP54
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EFL1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| SHWACHMAN-DIAMOND SYNDROME 1 |
C4692625 |
SBDS
|
Causal
Pathogenic evidence from ClinVar
|
12496757, 14749921, 15860664, 19148133, 21536732, 21695142, 22934832, 22935661, 24388329, 24629175, 24898207, 25525159 |
ClinVar |
|
SRP54
|
Causal
Pathogenic evidence from ClinVar
|
28972538 |
ClinVar |
|
TYW1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
