DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		0.800 CausalMutation disease CLINVAR
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		0.710 Biomarker disease GENOMICS_ENGLAND Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. 26762616 2016
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		0.710 Biomarker disease GENOMICS_ENGLAND Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. 23949819 2013
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		0.710 GeneticVariation disease BEFREE Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). 18362318 2008
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		0.710 GermlineCausalMutation disease ORPHANET DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. 15666299 2005
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		0.710 CausalMutation disease CLINVAR
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		0.710 Biomarker disease CTD_human
CUI: C0399373
Disease: Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism 		0.300 GermlineCausalMutation disease ORPHANET DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. 15666299 2005
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 GeneticVariation disease BEFREE Whole-exome sequencing identified a new DLX3 variant in one family, recruited as part of an ongoing study of genetic variants associated with AI. 30095208 2019
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 Biomarker disease BEFREE DLX3 is essential for tooth enamel development and is so far the only transcription factor known to be mutated in a syndromic form of amelogenesis imperfecta. 29745813 2018
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 GeneticVariation disease BEFREE Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. 26762616 2016
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 Biomarker disease BEFREE Mutation of distal-less homeobox 3 (DLX3) is responsible for human tricho-dento-osseous syndrome (TDO) with amelogenesis imperfecta, indicating a crucial role of DLX3 in amelogenesis. 25815730 2015
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 GeneticVariation disease BEFREE Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism. 18203197 2008
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 GeneticVariation disease BEFREE Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). 18362318 2008
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 GeneticVariation disease BEFREE DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. 15666299 2005
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 GeneticVariation disease CLINVAR
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 Biomarker disease HPO
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.170 CausalMutation disease CLINVAR
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.140 GeneticVariation disease BEFREE Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism. 18203197 2008
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.140 GeneticVariation disease BEFREE Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). 18362318 2008
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.140 Biomarker disease BEFREE Late genes expressed during root formation (ALPL and DLX3) are associated with cementum agenesis (hypophosphatasia) and taurodontism. 17552940 2007
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.140 GeneticVariation disease BEFREE DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. 15666299 2005
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.140 Biomarker disease HPO
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.140 CausalMutation disease CLINVAR
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.120 GeneticVariation disease BEFREE Here we show that the DLX3 mutation (c.533 A>G; Q178R) attenuates osteogenic potential and senescence of bone mesenchymal stem cells (BMSCs) isolated from a TDO patient, providing a molecular explanation for abnormal increased bone density. 27924851 2016