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: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 Biomarker disease CTD_human
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		0.700 CausalMutation disease CLINVAR
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 CausalMutation disease CLINVAR
CUI: C0221373
Disease: Claw hand
Claw hand 		0.150 Biomarker disease HPO
CUI: C0432028
Disease: Split foot
Split foot 		0.130 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		0.100 Biomarker disease HPO
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: C3887496
Disease: Oligodactyly
Oligodactyly 		0.100 Biomarker disease HPO
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: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 GeneticVariation disease BEFREE Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. 26839112 2016
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: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYC. 19497851 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE DLX5 was frequently upregulated in cell lines derived from several tumor types, including ovarian cancer. 21045156 2010
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease BEFREE DLX5 was frequently upregulated in cell lines derived from several tumor types, including ovarian cancer. 21045156 2010
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 AlteredExpression disease BEFREE DLX5 was frequently upregulated in cell lines derived from several tumor types, including ovarian cancer. 21045156 2010
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: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Dlx5 was required for tumor maintenance via its activation of Notch and Akt, as tumor cells were highly sensitive to Notch and Akt inhibitors. 28122332 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 AlteredExpression group BEFREE Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline. 30889190 2019
CUI: C0432028
Disease: Split foot
Split foot 		0.130 GeneticVariation disease BEFREE A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. 23169702 2012
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 GeneticVariation disease BEFREE A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. 23169702 2012
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.060 AlteredExpression disease BEFREE A deficiency in expression of Dss1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes. 8733122 1996