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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:Alagille syndrome pathway
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Accession:PW:0000349 term browser browse the term
Definition:Alagille syndrome is a developmental disease characterized by defects in heart, as well as liver, skeleton and eye. Abnormalities of the central nervous system are also found. The disease is associated with mutations across the entire Jag1 gene.


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Alagille syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISS RGD PMID:15057910 RGD:1334443 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
Term paths to the root
Path 1
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  pathway 6092
    disease pathway 1954
      cardiovascular system disease pathway 254
        cardiovascular abnormalities pathway 1
          congenital heart defects pathway 1
            Alagille syndrome pathway 1
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