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 GeneticVariation disease UNIPROT Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
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: 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 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: C0221373
Disease: Claw hand
Claw hand 		0.150 GeneticVariation disease BEFREE Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including split hand and foot malformation 1 in humans. 26829219 2016
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 GeneticVariation disease BEFREE In addition, its removal by chromosomal abnormalities in humans could cause split hand and foot malformation 1 (SHFM1), a disorder associated with DLX5/6. 22442009 2012
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 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 		0.150 GeneticVariation disease BEFREE Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
CUI: C0432028
Disease: Split foot
Split foot 		0.130 GeneticVariation disease BEFREE A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. 23169702 2012
CUI: C0432028
Disease: Split foot
Split foot 		0.130 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation disease BEFREE Two of the patients presented with typical M-D, whereas one paediatric patient with split-hand/split-foot malformation and sensorineural hearing loss (SHFM1D, OMIM 220600) had not developed M-D at the age of 9 years. 17898012 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 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: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 GeneticVariation disease BEFREE Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including split hand and foot malformation 1 in humans. 26829219 2016
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 GeneticVariation disease BEFREE A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. 23169702 2012
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 GeneticVariation disease BEFREE Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 GeneticVariation disease BEFREE We selected the 12 samples from the 40 RTT lymphoblast cell lines by a mononucleotide repeat polymorphism within the 3'UTR of DLX5. 17363207 2007
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 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: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 GeneticVariation disease BEFREE In addition, three genes, i.e., TP63, WNT10B, and DLX5 are known to carry point mutations in patients affected by SHFM. 24163146 2014
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 GeneticVariation disease BEFREE Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. 27821526 2016
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 GeneticVariation disease BEFREE Exome sequencing and variant screening of candidate genes in the six loci known to be responsible for SHFM revealed a novel heterozygous mutation, c.558G>T (p.(Gln186His)), in distal-less homeobox 5 (DLX5). 24496061 2014
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.030 GeneticVariation disease BEFREE A novel recurrent chromosomal inversion implicates the homeobox gene Dlx5 in T-cell lymphomas from Lck-Akt2 transgenic mice. 18316591 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 GeneticVariation 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: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 GeneticVariation group BEFREE Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. 27821526 2016