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: 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: 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 Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 22121204 2012
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 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: 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: C0432028
Disease: Split foot
Split foot 		0.130 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: C0432028
Disease: Split foot
Split foot 		0.130 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: C0432028
Disease: Split foot
Split foot 		0.130 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
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: 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 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: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.060 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: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.060 GeneticVariation disease BEFREE Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. 27821526 2016