DLX6, distal-less homeobox 6, 1750

N. diseases: 42; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.550 Biomarker disease GENOMICS_ENGLAND A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. 28611547 2017
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.550 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 		0.550 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 		0.550 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 		0.550 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 		0.550 Biomarker disease BEFREE Chromosome band 7q21.3 harbors a locus for split hand/split foot malformation (SHFM1), and part of this locus, including the SHFM1 candidate genes SHFM1, DLX5, and DLX6, is deleted. 17230488 2007
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.550 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 		0.550 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 		0.550 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: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.520 GermlineCausalMutation disease ORPHANET A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. 28611547 2017
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.520 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 		0.520 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 		0.520 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: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.520 Biomarker disease MGD Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past? 12434331 2002
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.520 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: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.300 Biomarker disease GENOMICS_ENGLAND A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. 28611547 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Dlx5/6-enhancer directed expression of Cre recombinase in the pharyngeal arches and brain. 14666512 2003
CUI: C0221373
Disease: Claw hand
Claw hand 		0.110 GeneticVariation disease BEFREE Chromosome band 7q21.3 harbors a locus for split hand/split foot malformation (SHFM1), and part of this locus, including the SHFM1 candidate genes SHFM1, DLX5, and DLX6, is deleted. 17230488 2007
CUI: C0221373
Disease: Claw hand
Claw hand 		0.110 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		0.100 Biomarker disease HPO
CUI: C0426868
Disease: Absence of hand
Absence of hand 		0.100 Biomarker phenotype HPO
CUI: C0728895
Disease: Absent finger
Absent finger 		0.100 Biomarker disease HPO