DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
Disease: Amelogenesis Imperfecta, Type IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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