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: 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
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Dlx5 regulates regional development of the branchial arches and sensory capsules. 10433912 1999
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5. 10433909 1999
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: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 Biomarker disease MGD Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past? 12434331 2002
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 AlteredExpression disease 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: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.530 Biomarker disease MGD 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: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 Biomarker disease MGD 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: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 Biomarker disease MGD Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past? 12434331 2002
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.360 AlteredExpression disease 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: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 AlteredExpression disease 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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Dlx5/6-enhancer directed expression of Cre recombinase in the pharyngeal arches and brain. 14666512 2003
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 AlteredExpression disease BEFREE This altered expression of Dlx5 through loss of silent chromatin loop formation provides a molecular mechanism underlying RTT and proposes a novel role for MeCP2 in chromatin organization and imprinting. 15954098 2005