MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Disease: Hypodontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia. 31469409 2020
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE In conclusion, the results of the present study showed that the variant genotype and variant T allele of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population. 31781599 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia. 30192788 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE In this study, a novel frameshift mutation, the twenty-nucleotide deletion (c.128_147del20, p.Met43Serfsx125), in exon1 of MSX1 was detected in a Chinese family causing autosomal dominant nonsyndromic oligodontia. 30134957 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree. 27485761 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth. 28040065 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Our results for the first time demonstrates that mutations in MSX1 gene might play an important role in hypodontia cases involving pre-molars and is a risk factor for this ethnic population mainly of Arabs and is first report linking these mutations with tooth agenesis. 27365112 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the pathogenesis of mutations that result in oligodontia phenotypes. 25377791 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 CausalMutation disease CLINVAR A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. 24914010 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case. 25101640 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE In conclusion, these meta-analysis results demonstrated that polymorphisms in the rs1095 region of the MSX1 gene may influence the transcriptional activity of this gene and are associated with hypodontia in humans. 25501212 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 Biomarker disease BEFREE Interaction was weaker between PAX9 and MSX1, while other SNPs had no joint effect on hypodontia. 23964635 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE This is the first report indicating that a non-stop mutation in MSX1 is responsible for oligodontia. 24914010 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G>A) in exon 1 of MSX1 from a family with oligodontia. 24329876 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 Biomarker disease BEFREE Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. 23317772 2013
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE DNA sequencing of the MSX1 gene revealed two mutations in the two patients with oligodontia: a heterozygotic silent mutation, c.348C>T (P.Gly116=), in exon 1 and a homozygotic deletion of 11 nucleotides (c.469+56delins GCCGGGTGGGG) in the intron. 23731659 2013
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Mutations of the AXIN2, MSX1, and PAX9 genes are associated with non-syndromic oligodontia. 24222224 2013
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 Biomarker disease BEFREE Our results demonstrate for the first time that MSX1 might play a substantial role in familial cases of hypodontia involving only second premolars and third molars. 22297032 2012
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Previous studies have indicated that mutations in the homeobox gene MSX1, paired domain transcription factor PAX9, and EDA are associated with non-syndromic oligodontia. 21098475 2011
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. 21626677 2011
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides third molars). 21448236 2011
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Our data suggest that Msx1 gene polymorphism is associated with hypodontia. 19776500 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 AlteredExpression disease BEFREE At present, the list of genes involved in human non-syndromic hypodontia includes not only those encoding a signaling molecule (TGFA) and transcription factors (MSX1 and PAX9) that play critical roles during early craniofacial development, but also genes coding for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1). 18771513 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 AlteredExpression disease BEFREE Therefore, the identified 11-nucleotide deletion may decrease the expression level of the MSX1 protein, but the link with oligodontia needs further study. 19346736 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE The occurrence of non-syndromic still remains poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia. 18374898 2008