ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Chromosome 11p11.2 Deletion Syndrome
0.340 GeneticVariation disease BEFREE Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. 26333423 2015
Chromosome 11p11.2 Deletion Syndrome
0.340 GeneticVariation disease BEFREE The proximal short arm of chromosome 11 harbors several candidate genes that could explain the patient's signs and symptoms including ALX4 and EXT2, which are always present in the interstitial deletion of the short arm of chromosome 11 in PSS. 17290930 2007
Chromosome 11p11.2 Deletion Syndrome
0.340 Biomarker 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
Chromosome 11p11.2 Deletion Syndrome
0.340 ChromosomalRearrangement disease ORPHANET Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. 15852040 2005
Chromosome 11p11.2 Deletion Syndrome
0.340 Biomarker disease BEFREE Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. 11903336 2001