MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE Association between CDH1 and MSX1 gene polymorphisms and the risk of nonsyndromic cleft lip and/or cleft palate in a southeast Iranian population. 23231047 2013
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis. 21689018 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE We pointed to: (i) a role of FOXE1 in controlling the expression of MSX1 and TGF-β3 relevant in craniofacial development and (ii) a causative part of FOXE1 mutations or mice Foxe1(-/-) genotype in the pathogenesis of cleft palate in the Bamforth-Lazarus syndrome. 21177256 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease BEFREE Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice. 19934017 2009
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease BEFREE Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). 18499550 2008
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE These results are consistent with evidence from other studies in the US and Chile and confirm the importance of the MSX1 genotype in determining the risk of CL/P and CP in Koreans. 17326252 2007
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease BEFREE Defective growth in the anterior palate of Msx1-/- and Fgf10-/- mice leads to a complete cleft palate and supports the anterior-to-posterior direction of palatal closure. 16313398 2005
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE Since the Msx1 mouse knockout has cleft palate and MSX1 mutations have been found in rare cases of syndromic CL/P, this locus is especially plausible for linkage. 14755461 2004
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease CTD_human [Genetic and experimental approach to bony craniofacial growth: the role of the divergent homeobox gene Msx1]. 15301380 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease CTD_human Transgenic rescue of the cleft palate of Msx1(-/-) mice overcame the neonatal lethality and allowed Msx1(-/-) mice to grow into adulthood but retain the phenotype of the absence of the malleal processus brevis. 12701100 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease BEFREE With likelihood ratio test analysis, "cleft lip only" showed association with MSX1 (p = 0.04) and "cleft palate only" with TGFB3 (p = 0.02). 12651933 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. 12807959 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE Transgenic expression of human Bmp4 driven by the mouse Msx1 promoter in the Msx1(-/-) palatal mesenchyme rescued the cleft palate phenotype and neonatal lethality. 12163415 2002
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease CTD_human Transgenic expression of human Bmp4 driven by the mouse Msx1 promoter in the Msx1(-/-) palatal mesenchyme rescued the cleft palate phenotype and neonatal lethality. 12163415 2002
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease BEFREE Prior studies have implicated an involvement of the Msx1 homeobox gene in cleft palate in mice and its homolog in humans (called MSX1 in the HOX7 gene, located on chromosome 4). 11332647 2001
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE The present study evaluated potential associations between CL+/-P and CP and two putative clefting susceptibility loci, MSX1 and TGFB3, using data from a nationwide case-control study conducted in Denmark from 1991 to 1994. 11384957 2001
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE MSX1 also showed significant evidence of linkage disequilibrium with a susceptibility gene controlling risk for CP. 11454503 2001
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 GeneticVariation disease BEFREE By comparison, risk estimates for maternal alcohol consumption (> or = 4 drinks/month) were significantly elevated for CLP and were most elevated among infants with allelic variants at the MSX1 site. 9988882 1999
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.400 Biomarker disease BEFREE The Msx1-/Msx1- phenotype is similar to human cleft palate, and provides a genetic model for cleft palate and oligodontia in which the defective gene is known. 7914451 1994