DLX2, distal-less homeobox 2, 1746

N. diseases: 34; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE Upregulation of DLX2 confers a poor prognosis in glioblastoma patients by inducing a proliferative phenotype. 23331016 2013
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.020 AlteredExpression disease BEFREE Altogether these data suggest a molecular mechanism for tooth development involving Dlx2 gene expression in ARS patients. 11929847 2002
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.020 AlteredExpression disease BEFREE Gene expression profiling of homozygous Pitx2 mutant mouse tissue reveals decreased Dlx2 expression as a potential molecular basis for developmental defects associated with ARS patients. 15751970 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. 18728693 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 GeneticVariation disease BEFREE The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. 18728693 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 Biomarker disease CTD_human The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. 18728693 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 Biomarker disease BEFREE Genetic studies have reported an association between autism and DLX2, HOXA1, EN2, ARX, and FOXP2 genes whereas only three studies of EN2, OTX2, and FOXP2 were performed on schizophrenia. 19018235 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 GeneticVariation disease LHGDN The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. 18728693 2009
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		0.010 GeneticVariation disease BEFREE This mutation is associated with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents clinically with the full spectrum of developmental anomalies (including tooth anomalies), is unable to transactivate the Dlx2 promoter. 11929847 2002
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.010 AlteredExpression group BEFREE DLX1 and/or DLX2 activated the transcription of both <i>Gad</i> genes, and defects in <i>Dlx</i> function disrupted the differentiation of GABAergic interneurons with global reduction in GABA levels in the forebrains of the <i>Dlx1/Dlx2</i> double knock-out mouse <i>in vivo</i> Identification of <i>Gad</i> genes as direct <i>Dlx</i> transcriptional targets is significant; it extends our understanding of <i>Dlx</i> gene function in the developing forebrain beyond the regulation of tangential interneuron migration to the differentiation of GABAergic interneurons arising from the basal telencephalon, and may help to unravel the pathogenesis of several developmental brain disorders.<b>SIGNIFICANCE STATEMENT</b> GABA is the major inhibitory neurotransmitter in the brain. 28821666 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Our studies indicate that DLX genes are involved in human breast cancer progression, and that DLX2 and DLX5 genes might serve as prognostic markers. 21108812 2010
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 AlteredExpression disease BEFREE Upregulation of DLX2 confers a poor prognosis in glioblastoma patients by inducing a proliferative phenotype. 23331016 2013
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. 9187081 1997
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.010 Biomarker group BEFREE The 2q31.1 deletion resulted in the loss of one copy of several known disease genes, including GAD1, DCAF17, SLC25A12 and ITGA6 associated with mental retardation and facial abnormalities and DLX1/DLX2 partially associated with limb abnormalities. 24412318 2014
CUI: C3665629
Disease: Dental fluorosis
Dental fluorosis 		0.010 GeneticVariation disease BEFREE Our results provided evidence that polymorphisms in TIMP1, DLX1 and DLX2 genes may be associated with DF phenotypes. 28131910 2017
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired 		0.010 GeneticVariation disease BEFREE Our results provided evidence that polymorphisms in TIMP1, DLX1 and DLX2 genes may be associated with DF phenotypes. 28131910 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE As a strategy to define the embryonic origin and neurochemical phenotype of cells in this disease, we probed specimens (n = 10) resected during epilepsy surgery with a panel of 13 antibodies recognizing proteins associated with (i) specific progenitor cell types including brain lipid binding protein (BLBP), collapsin response mediator protein 4 (CRMP4), Dlx1, Dlx2, GFAPdelta, MASH1, Otx1, Pax6, vimentin and phosphorylated vimentin and (ii) excitatory or inhibitory neurochemical phenotypes such as the vesicular glutamate transporters-1 and 2 (VGLUT-1, VGLUT-2), or the vesicular GABA transporter (VGAT). 17711980 2007
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE Upregulation of DLX2 confers a poor prognosis in glioblastoma patients by inducing a proliferative phenotype. 23331016 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE Collectively, these data identified high expression of DLX2 as a poor prognostic marker to GBM patients. 23331016 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 AlteredExpression group BEFREE The distal-less homeobox2 (DLX2) gene encodes for a homeobox transcription factor involved in morphogenesis and its deregulation was found in human solid tumors and hematologic malignancies. 26799321 2016
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.010 AlteredExpression disease BEFREE Since Dlx2 expression is required for tooth and craniofacial development the lack of tooth anomalies in the patient with IH may be due to the residual activity of this mutant in activating the Dlx2 promoter. 11929847 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 Biomarker group BEFREE The 2q31.1 deletion resulted in the loss of one copy of several known disease genes, including GAD1, DCAF17, SLC25A12 and ITGA6 associated with mental retardation and facial abnormalities and DLX1/DLX2 partially associated with limb abnormalities. 24412318 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE HCC cells with higher DLX2 expression were more sensitive to acRoots. 30415058 2019
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.010 AlteredExpression group BEFREE TRAF1 is amongst the most highly TES1-induced target genes and is abundantly expressed in EBV-associated lymphoproliferative disorders. 25996949 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Our studies indicate that DLX genes are involved in human breast cancer progression, and that DLX2 and DLX5 genes might serve as prognostic markers. 21108812 2010