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: 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: 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: 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
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: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease 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: 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: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE Instead, in bone and lung metastases resulting from intravenous injection we detected expression of DLX5/6 but not of DLX2, suggesting that DLX5/6 are activated during metastasis formation, and that their expression is alternative to that of DLX2. 21108812 2010
CUI: C0265341
Disease: Rieger syndrome
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype BEFREE Instead, in bone and lung metastases resulting from intravenous injection we detected expression of DLX5/6 but not of DLX2, suggesting that DLX5/6 are activated during metastasis formation, and that their expression is alternative to that of DLX2. 21108812 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype BEFREE Finally, Dlx2 expression supports experimental tumour growth and metastasis of B16 melanoma cells and correlates with tumour malignancy in a variety of human cancer types. 21897365 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 GeneticVariation phenotype BEFREE Together, these results reveal an important role for DLX2-NRP2 in p53-R273H-induced cell mobility and tumor metastasis. 28796261 2017