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Diseases Associated with Glycosaminoglycan Metabolism - Ontify
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Diseases Associated with Glycosaminoglycan Metabolism
Instance of the biological pathway in Homo sapiens with Reactome ID (R-HSA-3560782).
Statements about
Diseases Associated with Glycosaminoglycan Metabolism
Instance Of
Biological Pathway
Has Part(s)
15 items
Defective SLC26A2 Causes Chondrodysplasias
Defective B4GALT7 Causes EDS, Progeroid Type
Defective PAPSS2 Causes SEMD-PA
Defective B3GAT3 Causes JDSSDHD
Defective CHST3 Causes SEDCJD
Defective CHST14 Causes EDS, Musculocontractural Type
Defective CHSY1 Causes TPBS
Defective CHST6 Causes MCDC1
Defective EXT2 Causes Exostoses 2
Defective B4GALT1 Causes B4GALT1-CDG (CDG-2d)
Defective EXT1 Causes Exostoses 1, TRPS2 and CHDS
Defective ST3GAL3 Causes MCT12 and EIEE15
Defective B3GALT6 Causes EDSP2 and SEMDJL1
Defective HEXA Causes GM2G1
Defective HEXB Causes GM2G2
Part Of
Diseases of Glycosylation
Exact Match
https://identifiers.org/reactome:R-H ...
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