DLX6, distal-less homeobox 6, 1750

N. diseases: 42; N. variants: 0
Disease: Split-Hand/Foot Malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.030 Biomarker disease BEFREE In the limb buds of both p63 and Dlx5;Dlx6 murine models of SHFM, the AER is poorly stratified and FGF8 expression is severely reduced. 24569166 2014
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.030 AlteredExpression disease BEFREE Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM). 22342398 2012
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.030 AlteredExpression disease BEFREE Here we show that the targeted double inactivation of Dlx5 and Dlx6 in the mouse causes in homozygous mutant animals bilateral ectrodactyly with a severe defect of the central ray of the hindlimbs, a malformation typical of SHFM1. 12112878 2002