| Galloway Mowat syndrome |
C0795949 |
LAGE3
|
Causal
Pathogenic evidence from ClinVar
|
28805828 |
ClinVar |
|
NUP107
|
Causal
Pathogenic evidence from ClinVar
|
28280135 |
ClinVar |
|
NUP133
|
Causal
Pathogenic evidence from ClinVar
|
30427554 |
ClinVar |
|
OSGEP
|
Causal
Pathogenic evidence from ClinVar
|
28805828 |
ClinVar |
|
TP53RK
|
Causal
Pathogenic evidence from ClinVar
|
28805828 |
ClinVar |
|
TPRKB
|
Causal
Pathogenic evidence from ClinVar
|
28805828 |
ClinVar |
|
WDR4
|
Causal
Pathogenic evidence from ClinVar
|
30079490 |
ClinVar |
|
WDR73
|
Causal
Pathogenic evidence from ClinVar
|
25466283 |
ClinVar |
| Galloway-Mowat syndrome |
2065 |
LAGE3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NUP107
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NUP133
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
OSGEP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TP53RK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TPRKB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WDR4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WDR73
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| GALLOWAY-MOWAT SYNDROME 2, X-LINKED |
C4538784 |
LAGE3
|
Causal
Pathogenic evidence from ClinVar
|
28805828 |
ClinVar |
| GALLOWAY-MOWAT SYNDROME 3 |
C4540266 |
OSGEP
|
Causal
Pathogenic evidence from ClinVar
|
28272532, 28805828 |
ClinVar |
| GALLOWAY-MOWAT SYNDROME 4 |
C4540270 |
TP53RK
|
Causal
Pathogenic evidence from ClinVar
|
28805828 |
ClinVar |
| GALLOWAY-MOWAT SYNDROME 5 |
C4540274 |
TPRKB
|
Causal
Pathogenic evidence from ClinVar
|
28805828, 30053862 |
ClinVar |
| GALLOWAY-MOWAT SYNDROME 1 |
C4551772 |
WDR73
|
Causal
Pathogenic evidence from ClinVar
|
18019379, 25466283, 26070982 |
ClinVar |
|
SCAND2P
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25466283 |
- |
|
ZNF592
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |