| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H02591
|
Interleukin-18 binding protein deficiency
|
Interleukin-18 binding protein deficiency is caused by inborn errors in IL18BP, which encodes IL-18 binding protein (IL-18BP), resulting in fulminant viral hepatitis (FVH) by unleashing IL-18. IL-18BP ...
|
Immune system disease
|
|
IL18BP [HSA:10068] [KO:K25565]
|
|
H02666
|
Chilton-Okur-Chung neurodevelopmental syndrome
|
... reported that mutations in CDC42BPB cause this syndrome. CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase beta (MRCKB), which plays an important role in the regulation of cytoskeletal reorganization ...
|
Congenital malformation
|
|
CDC42BPB [HSA:9578] [KO:K16307]
|
|
H02686
|
Developmental delay with dysmorphic facies and dental anomalies
|
... with crucial roles in development and maturation of T cells. Missense variants in the CUT1 and CUT2 DNA-binding domains result in a severe phenotype that is known as den Hoed-de Boer-Voisin syndrome (DHDBV)
|
Congenital malformation
|
|
(DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225]
|
|
H02689
|
Retinal dystrophy with leukodystrophy
|
... peroxisomal very long-chain fatty acid metabolism. It has been reported that mutations in ACBD5 cause this disease. ACBD5 encodes a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain.
|
Inherited metabolic disorder
|
|
ACBD5 [HSA:91452] [KO:K27288]
|
|
H02698
|
Trichohepatoneurodevelopmental syndrome
|
... features, hypotonia, and global developmental delay. It has been reported that bi-allelic loss-of-function mutations in CCDC47 cause this disease. CCDC47 encodes the calcium-binding ER transmembrane protein.
|
Congenital malformation
|
|
CCDC47 [HSA:57003] [KO:K24962]
|
|
H02787
|
Mahvash disease
|
... glucagon receptor, a G-protein-coupled receptor expressed mainly in the liver and kidney. Upon glucagon binding, it activates the stimulatory G protein (Gs) and increases cAMP level, subsequently transducing ...
|
Endocrine and metabolic disease
|
|
GCGR [HSA:2642] [KO:K04583]
|