Glycosylphosphatidyl inositol anchor pathway (Homo sapiens)
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Description
Literature reference
Quality Tags
Ontology Terms
Pathway Ontology : regulatory pathway
Disease : spondylometaepiphyseal dysplasia, short limb-hand type acrocapitofemoral dysplasia camptodactyly-tall stature-scoliosis-hearing loss syndrome Eiken syndrome osteogenesis imperfecta cleidocranial dysplasia Muenke Syndrome osteoglophonic dysplasia Jansen's metaphyseal chondrodysplasia Greig cephalopolysyndactyly syndrome Pfeiffer syndrome hypochondroplasia metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome spondyloepimetaphyseal dysplasia, Missouri type Schmid metaphyseal chondrodysplasia polydactyly brachydactyly type A1 Pallister-Hall syndrome Crouzon syndrome-acanthosis nigricans syndrome metaphyseal dysplasia achondroplasia chondrodysplasia Blomstrand type
Bibliography
- Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA; ''Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.''; Mol Genet Metab, 2015 PubMed Europe PMC Scholia
- Freeze HH; ''Understanding human glycosylation disorders: biochemistry leads the charge.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
- Komath SS, Fujita M, Hart GW, Ferguson MAJ, Kinoshita T; ''Glycosylphosphatidylinositol Anchors.''; , 2022 PubMed Europe PMC Scholia
History
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External references
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Annotated Interactions
No annotated interactions