| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H02648
|
Acantholytic blistering of the oral and laryngeal mucosa
|
... and genital mucosa, hair, and nails are unaffected. It has been reported that mutations in DSG3 cause this disease. DSG3 encodes a desmosomal cadherin that is expressed predominantly in the basal layer.
|
Digestive system disease
|
|
DSG3 [HSA:1830] [KO:K07598]
|
|
H02711
|
Acetyl-CoA carboxylase-alpha deficiency
|
Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is a rare autosomal recessive inborn error of metabolism caused by mutations in ACACA. ACACAD is characterized by hypotonia, motor and intellectual developmental ...
|
Inherited metabolic disorder
|
|
ACACA [HSA:31] [KO:K11262]
|
|
H02730
|
Severe congenital liver disease
|
... syndrome characterized by severe neonatal liver cirrhosis. The recessive loss-of-function mutations in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance ...
|
Digestive system disease
|
|
FOCAD [HSA:54914] [KO:K27498]
|