DLX5, distal-less homeobox 5, 1749

N. diseases: 69; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 Biomarker disease GENOMICS_ENGLAND Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1. 27085093 2016
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 GeneticVariation disease UNIPROT Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 GermlineCausalMutation disease ORPHANET Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 Biomarker disease CTD_human
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 CausalMutation disease CLINVAR
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 GeneticVariation disease BEFREE Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males. 25196357 2014
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 GermlineCausalMutation disease ORPHANET Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. 24496061 2014
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 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: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 Biomarker disease MGD Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. 18326838 2008
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 Biomarker disease MGD Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past? 12434331 2002
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 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
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 Biomarker disease MGD 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
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 GeneticVariation disease BEFREE Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. 26839112 2016
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 GeneticVariation disease BEFREE Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males. 25196357 2014
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 Biomarker disease BEFREE The duplicated region harbors only DLX5 and DLX6, which are known for their role in SHFM1. 23169702 2012
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 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: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 GeneticVariation disease BEFREE Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes. 19401716 2009
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 Biomarker disease MGD Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. 18326838 2008
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 Biomarker disease MGD 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
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 Biomarker disease MGD Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past? 12434331 2002
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 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
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 CausalMutation disease CLINVAR
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group BEFREE Through genotype-phenotype correlations of 100 patients with molecularly characterized chromosomal aberrations from 32 SHFM1 families, our findings suggest three phenotypic subregions within the SHFM1 locus associated with (1) isolated SHFM, (2) SHFM and hearing loss, and (3) SHFM, hearing loss, and craniofacial anomalies, respectively (ranked for increasing proximity to DLX5/6), and encompassing previously reported tissue-specific enhancers for DLX5/6. 26839112 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Dlx5/6-enhancer directed expression of Cre recombinase in the pharyngeal arches and brain. 14666512 2003