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: C0426868
Disease: Absence of hand
Absence of hand 		0.100 Biomarker phenotype HPO
CUI: C0728895
Disease: Absent finger
Absent finger 		0.100 Biomarker disease HPO
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: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear 		0.010 GeneticVariation disease BEFREE In addition, aged Plcg1<sup>F/F</sup>; Dlx5/6-Cre mice exhibit other behavioral alterations, including hypoactivity, reduced anxiety, and fear memory deficit. 31780806 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE DLX5 expression was biallelic in two ASD patients and two controls, indicating that DLX5 was not imprinted.There was no mutation in DLX5 in ASD. 19195802 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE From these points, DLX5 and DLX6 are candidate genes for autism. 19195802 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 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: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5. 10433909 1999
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 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
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE DLX5 was frequently upregulated in cell lines derived from several tumor types, including ovarian cancer. 21045156 2010
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 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: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.010 Biomarker disease BEFREE These findings suggest that regulatory cascades involving DLX5/6 might be at the origin of endometriosis symptoms such as chronic pelvic pain (CPP). 29692624 2018
CUI: C0404484
Disease: Chronic pelvic pain of female
Chronic pelvic pain of female 		0.010 Biomarker phenotype BEFREE These findings suggest that regulatory cascades involving DLX5/6 might be at the origin of endometriosis symptoms such as chronic pelvic pain (CPP). 29692624 2018
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 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: C0221373
Disease: Claw hand
Claw hand 		0.150 GeneticVariation disease BEFREE Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including split hand and foot malformation 1 in humans. 26829219 2016
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 GeneticVariation disease BEFREE In addition, its removal by chromosomal abnormalities in humans could cause split hand and foot malformation 1 (SHFM1), a disorder associated with DLX5/6. 22442009 2012
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 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: C0221373
Disease: Claw hand
Claw hand 		0.150 Biomarker disease HPO
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 GeneticVariation disease BEFREE Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012