| Adenylosuccinate lyase deficiency |
46 |
ADSL
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Adenylosuccinate lyase deficiency (disorder) |
C0268126 |
ADSL
|
Causal
Pathogenic evidence from ClinVar
|
1302001, 9266401, 9545543, 10090474, 10888601, 10958654, 12368987, 12833398, 16839792, 17188615, 18524658, 19405474, 20127976, 20175147, 20933180, 21210713, 22180458, 22812634, 23504561, 23714113, 25112391, 27504266 |
ClinVar |
| Adenylosuccinate lyase deficiency type 1 |
C4721811 |
ADSL
|
Causal
Pathogenic evidence from ClinVar
|
10888601, 10958654, 12833398 |
ClinVar |
| Adenylosuccinate lyase deficiency type 2 |
C4721814 |
ADSL
|
Causal
Pathogenic evidence from ClinVar
|
10888601, 10958654, 12833398 |
ClinVar |
| Adenylosuccinate lyase deficiency type 3 |
C4721813 |
ADSL
|
Causal
Pathogenic evidence from ClinVar
|
10888601, 10958654, 12833398 |
ClinVar |
| Adenylosuccinate lyase deficiency type 4 |
C4721812 |
ADSL
|
Causal
Pathogenic evidence from ClinVar
|
10888601, 10958654, 12833398 |
ClinVar |
