DLX6, distal-less homeobox 6, 1750

N. diseases: 42; N. variants: 0
Disease: RAPP-HODGKIN SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		0.010 GeneticVariation 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