CHRD, chordin, 8646

N. diseases: 18; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.030 Biomarker group BEFREE Study of Chordin;Noggin mutant mice is helping us to understand the molecular, cellular, and genetic pathogenesis of HPE and associated malformations. 20104603 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.030 Biomarker group BEFREE Without it, lack of chordin results in a low penetrance of mandibular hypoplasia but no cardiac or thoracic organ malformations. 19247433 2009
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.030 GeneticVariation group BEFREE We considered that the CHRD gene and the chordin-regulating GSC (goosecoid) gene could be candidate genes for Cornelia de Lange syndrome (CDLS), a developmental malformation syndrome which is primarily characterised by mental handicap, growth retardation, distinctive facial features and limb-reduction defects. 10480362 1999