DLX6, distal-less homeobox 6, 1750

N. diseases: 42; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE <b>Results:</b><i>DLX6-AS1</i> was over-expressed in NSCLC tumor tissues and cell lines and its level of expression was found to be associated with tumor size and advanced clinical stage in patients with NSCLC. 31190891 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE The aim of the present study was to assess the expression profile of distal‑less homeobox 6 antisense RNA 1 (DLX6‑AS1) in ESCC tissues and its contributions to ESCC cell proliferation, apoptosis and invasion. 30592268 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE The aim of the present study was to assess the expression profile of distal‑less homeobox 6 antisense RNA 1 (DLX6‑AS1) in ESCC tissues and its contributions to ESCC cell proliferation, apoptosis and invasion. 30592268 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 AlteredExpression group BEFREE To address this issue, we investigated the peptide commonalities between viruses that have been related to psychiatric and neurological disorders-such as rubella, human immunodeficiency virus, and herpesviruses-and human distal-less homeobox (DLX) proteins expressed in developing brain-namely, DLX1, DLX2, DLX5, and DLX6. 29618965 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 GeneticVariation disease BEFREE This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. 24699068 2014
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.010 Biomarker disease BEFREE A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. 24699068 2014
CUI: C0740404
Disease: Limb defects
Limb defects 		0.010 Biomarker group BEFREE While double knockout of Dlx5 and Dlx6 resulted in limb defects in mice, the majority of patients with SHFM1 had only heterozygous chromosomal abnormalities. 25332435 2014
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 GeneticVariation disease BEFREE This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. 24699068 2014
CUI: C1839730
Disease: Prieto X-linked mental retardation syndrome
Prieto X-linked mental retardation syndrome 		0.010 GeneticVariation disease BEFREE This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. 24699068 2014
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 GeneticVariation disease BEFREE This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. 24699068 2014
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 AlteredExpression disease BEFREE Functional studies demonstrated a significant reduction in downstream DLX5 and DLX6 expression in ACS cases in assays using cultured osteoblasts from probands and controls. 22560091 2012
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		0.010 GeneticVariation 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: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 Biomarker disease BEFREE Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency. 21505076 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 Biomarker disease BEFREE We show that: (i) allelic reduction of Dlx5 and Dlx6 in the mouse results in a POI-like phenotype, characterized by reduced fertility and early follicular exhaustion; (ii) in granulosa cell lines, a reciprocal regulation exists between Dlx5 and Foxl2; (iii) in the mouse ovary, allelic reduction of Dlx5/6 results in the upregulation of Foxl2. 21505076 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Expression of DLX2, DLX5 and DLX6 was assessed in cultured cells, either treated or not with ET1, tumors and metastases by RT-PCR. 21108812 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE And we also analyzed DLX5 and DLX6 on ASD patients for mutation by direct sequence. 19195802 2010
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE While the breakpoint does not disrupt either DLX5 or DLX6, the syndrome present in the family is similar to that observed in Dlx5 knockout mice and includes a subset of the features observed in individuals with DLX5 and DLX6 deletions, implicating dysregulation of DLX5 and DLX6 in the family's phenotype. 19707792 2010
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 AlteredExpression group BEFREE Expression of DLX2, DLX5 and DLX6 was assessed in cultured cells, either treated or not with ET1, tumors and metastases by RT-PCR. 21108812 2010
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.010 AlteredExpression disease BEFREE In addition, DLX5, but not DLX6, was found to be abundantly expressed in three of seven human T-cell lymphomas tested. 18316591 2008
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 AlteredExpression disease BEFREE Recent literature claimed that the developmental homeobox gene DLX5 is imprinted and that its imprinting status is modulated by MeCP2, leading to biallelic expression in Rett syndrome and twofold overexpression of Dlx5 and Dlx6 in Mecp2-null mice. 17701895 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 AlteredExpression group 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: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.010 GeneticVariation group BEFREE Indeed, autosomal dominant limb malformations with increasing severity in successive generations have been linked to the chromosomal region that contains DLX6. 11719259 2002
CUI: C0302142
Disease: Deformity
Deformity 		0.010 AlteredExpression group 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: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 Biomarker disease BEFREE Targeted inactivation of Dlx5 and Dlx6 genes in mice results in severe craniofacial, axial, and appendicular skeletal abnormalities, leading to perinatal lethality. 12000792 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE <b>Results:</b><i>DLX6-AS1</i> was over-expressed in NSCLC tumor tissues and cell lines and its level of expression was found to be associated with tumor size and advanced clinical stage in patients with NSCLC. 31190891 2019