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: 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 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: 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: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 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: 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 Biomarker 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: 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: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 Biomarker disease BEFREE The conclusion that DLX5 is a direct target of MeCP2 has implications for research on the molecular bases of Rett syndrome, autism, and genomic imprinting. 17701895 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 AlteredExpression disease BEFREE Decreased dendritic arborization is common to RS and autism, leading to further research on similarities in pathogenesis, including MeCP2 protein levels in autistic brains and MeCP2 effects on genes connected to autism, like DLX5 and genes on 15q11-13 region. 17562589 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 AlteredExpression disease BEFREE This altered expression of Dlx5 through loss of silent chromatin loop formation provides a molecular mechanism underlying RTT and proposes a novel role for MeCP2 in chromatin organization and imprinting. 15954098 2005
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 Biomarker disease LHGDN This altered expression of Dlx5 through loss of silent chromatin loop formation provides a molecular mechanism underlying RTT and proposes a novel role for MeCP2 in chromatin organization and imprinting. 15954098 2005
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 AlteredExpression disease BEFREE Because Dlx5 regulates production of enzymes that synthesize gamma-aminobutyric acid (GABA), loss of imprinting of Dlx5 may alter GABAergic neuron activity in individuals with Rett syndrome. 15608638 2005
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 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: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 AlteredExpression disease BEFREE A deficiency in expression of Dss1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes. 8733122 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Dlx5 was required for tumor maintenance via its activation of Notch and Akt, as tumor cells were highly sensitive to Notch and Akt inhibitors. 28122332 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE DLX5 was frequently upregulated in cell lines derived from several tumor types, including ovarian cancer. 21045156 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYC. 19497851 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE Expression analysis of genes translocated to the vicinity of the Tcrb enhancer revealed that Dlx5 and Dlx6 are overexpressed in tumors exhibiting the inv(6). 18316591 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Immunohistochemical analysis showed that positive immunostaining of DLX5 was correlated with tumor size (pT classification; P = 0.0053) and poorer prognosis of non-small cell lung cancer patients (P = 0.0045). 18413826 2008
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 AlteredExpression disease BEFREE Additionally, we detected enriched expression of WNT5A and DLX5 in normal human lung epithelial 16HBE cells and human lung cancer H1299 cells in vitro. 30901718 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 Biomarker disease BEFREE The Dlx5 homeodomain is a transcription factor related to the Drosophila distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. 26829219 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 Biomarker disease BEFREE Recently, DLX5 was reported to act as an oncogene in lymphomas and lung cancers, although the mechanism is not known. 19497851 2009
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 AlteredExpression disease BEFREE Treatment of lung cancer cells with small interfering RNAs for DLX5 effectively knocked down its expression and suppressed cell growth. 18413826 2008