Defective CYP7B1 causes SPG5A and CBAS3

authored
created [InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference
dbId 5579013
disease
displayName Defective CYP7B1 causes SPG5A and CBAS3
edited
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hasDiagram true
hasEHLD false
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isInDisease true
isInferred false
lastUpdatedDate 2019-03-25
literatureReference
maxDepth 2
modified [InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
  • Defective CYP7B1 causes SPG5A and CBAS3
  • Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
normalPathway [Pathway:R-HSA-211945] Phase I - Functionalization of compounds
releaseDate 2014-12-11
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass Pathway
species
stId R-HSA-5579013
summation
updateTrackers
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