Disease Term Disease ID Gene Symbol Classification References Source
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 - -