Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

authored
created [InstanceEdit:5619074] Jassal, Bijay, 2014年08月22日
crossReference
dbId 5619050
disease
displayName Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
edited
eventOf
hasDiagram true
hasEHLD false
hasEvent
isInDisease true
isInferred false
lastUpdatedDate 2019年03月25日
literatureReference
maxDepth 2
modified [InstanceEdit:12757879] Weiser, Joel, 2025年08月05日
name
  • Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
normalPathway [Pathway:R-HSA-1237044] Erythrocytes take up carbon dioxide and release oxygen
releaseDate 2015年09月22日
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass Pathway
species
stId R-HSA-5619050
summation
updateTrackers
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