GSC, goosecoid homeobox, 145258

N. diseases: 61; N. variants: 3
Disease: Congenital Abnormality ×
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 We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia. 28109504 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. 24290375 2013
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