EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
Disease: PARIETAL FORAMINA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.120 Biomarker disease BEFREE Some of the clinical features are thought to be associated with haploinsufficiency of two genes in the 11p11.2 region; variants affecting the function of ALX4 cause enlarged parietal foramina and EXT2 lead to multiple exostoses. 30487643 2019
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.120 GeneticVariation disease BEFREE The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. 15852040 2005
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.120 Biomarker disease HPO