GSC, goosecoid homeobox, 145258

N. diseases: 61; N. variants: 3
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.020 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: C0302142
Disease: Deformity
Deformity 		0.020 GeneticVariation group BEFREE This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. 24290375 2013