EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Overriding toe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.010 GeneticVariation disease BEFREE Among the novel mutations in EXT1, c.1004T>G-associated HME exhibited overriding toes and scoliosis, c.1883+2T>A-associated HME exhibited brachydactyly, and c.459_460delCT-associated exostosis arising from vertebra T4 caused spinal cord compression. 21039224 2010