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FLASH GENE
Symbol CRELD1 contributors: mct - updated : 17-11-2012
HGNC name cysteine-rich with EGF-like domains 1
HGNC id 14630
ASSOCIATED DISORDERS
corresponding disease(s) AVSD2 , DEL3PD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in ASD, VSD
Susceptibility to atrioventricular septal defects
Variant & Polymorphism other
  • rs9878047 (c.1049-129T&
  • 8201;>&
    8201;C), rs3774207 (c.1119C&
    8201;>&
    8201;T), and rs73118372 (c.1136T&
    8201;>&
    8201;C) predispose Down syndrome and euploids individuals to atrioventricular septal defect
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS