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: 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: 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: 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: 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: 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: 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: 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: 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 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 GeneticVariation disease LHGDN The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. 18728693 2009
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: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Genes involved in brain development and neuronal differentiation, such as BMP4, POU4F3, GDNF, OTX2, NEFM, CNTN4, OTP, SIM1, FYN, EN1, CHAT, GSX2, NKX6-1, PAX6, RAX, and DLX2, were strongly enriched among genes frequently methylated in tumors. 20233874 2010
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: 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: 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 AlteredExpression group 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE In the present study, we show that Distal-less 2 (Dlx-2), a homeobox gene of the Dlx family that is involved in embryonic development, is induced in cancer cell lines dependently of reactive oxygen species (ROS) in response to glucose deprivation (GD), one of the metabolic stresses occurring in solid tumors. 21917150 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 AlteredExpression group BEFREE Increased Dlx-2 expression was also detected in the inner regions, which experience metabolic stress, of human tumors and of a multicellular tumor spheroid, an in vitro model of solid tumors. 21917150 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE These results establish Dlx2 as one critical player in shifting TGFβ from its tumour suppressive to its tumour-promoting functions. 21897365 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE In the present study, we show that Distal-less 2 (Dlx-2), a homeobox gene of the Dlx family that is involved in embryonic development, is induced in cancer cell lines dependently of reactive oxygen species (ROS) in response to glucose deprivation (GD), one of the metabolic stresses occurring in solid tumors. 21917150 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 AlteredExpression group 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 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: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE These results suggest that Dlx-2 may be involved in tumor progression via the regulation of metabolic stress-induced necrosis. 21917150 2011