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FLASH GENE
Symbol PAX9 contributors: mct/npt/pgu - updated : 27-06-2018
HGNC name paired box 9
HGNC id 8623
ASSOCIATED DISORDERS
corresponding disease(s) OLD , HYD1 , DEL14QP
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --other  
aberrant expression in chondrocytes of vertebral column in Jarcho-Levin syndrome
Susceptibility
  • to nonsyndromic cleft lip with or without cleft palate
  • to morphological variation in permanent teeth
  • Variant & Polymorphism other
  • polymorphisms increasing the risk of nonsyndromic cleft lip with or without cleft palate
  • significant associations of PAX9 SNPs with shoveling of upper first incisors
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS