| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H02656
|
X-linked multisystem autoinflammatory disease with immune dysregulation
|
... of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. DOCK11 activates CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular ...
|
Immune system disease
|
|
DOCK11 [HSA:139818] [KO:K21853]
|
|
H02666
|
Chilton-Okur-Chung neurodevelopmental syndrome
|
... disability, autism, hypotonia, and structural brain abnormalities. It has been reported that mutations in CDC42BPB cause this syndrome. CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase beta (MRCKB) ...
|
Congenital malformation
|
|
CDC42BPB [HSA:9578] [KO:K16307]
|
|
H02667
|
Takenouchi-Kosaki syndrome
|
Takenouchi-Kosaki syndrome (TKS) is a recently recognized autosomal dominant disorder caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly, structural ...
|
Congenital malformation
|
|
CDC42 [HSA:998] [KO:K04393]
|