MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928890
rs28928890
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		0.800 GeneticVariation UNIPROT Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 12807959 2003
dbSNP: rs28933081
rs28933081
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		0.800 GeneticVariation UNIPROT Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 12807959 2003
dbSNP: rs121913129
rs121913129
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		0.800 GeneticVariation UNIPROT The role of MSX1 in human tooth agenesis. 12097313 2002
dbSNP: rs121913130
rs121913130
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		0.800 GeneticVariation UNIPROT The role of MSX1 in human tooth agenesis. 12097313 2002
dbSNP: rs121913129
rs121913129
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		0.800 GeneticVariation UNIPROT A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 8696335 1996
dbSNP: rs121913130
rs121913130
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		0.800 GeneticVariation UNIPROT A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 8696335 1996
dbSNP: rs121913129
rs121913129
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121913130
rs121913130
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28928890
rs28928890
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28933081
rs28933081
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs515726227
rs515726227
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0020608
Disease:
Hypodontia 		CAT 0.710 CausalMutation CLINVAR In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. 24914010 2014
dbSNP: rs515726227
rs515726227
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0020608
Disease:
Hypodontia 		0.710 GeneticVariation BEFREE In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. 24914010 2014
dbSNP: rs515726227
rs515726227
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0020608
Disease:
Hypodontia 		CAT 0.710 CausalMutation CLINVAR A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 8696335 1996
dbSNP: rs150284621
rs150284621
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		0.700 GeneticVariation UNIPROT Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 12807959 2003
dbSNP: rs759548721
rs759548721
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		0.700 GeneticVariation UNIPROT Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 12807959 2003
dbSNP: rs104893850
rs104893850
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893852
rs104893852
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104893853
rs104893853
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0406735
Disease:
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104893854
rs104893854
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C1837210
Disease:
OROFACIAL CLEFT 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553877821
rs1553877821
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C3489529
Disease:
Tooth Agenesis, Familial 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1553878162
rs1553878162
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0406735
Disease:
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs12532
rs12532
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C4321245
Disease:
Cleft lip or lips 		0.020 GeneticVariation BEFREE Although MSX1 rs3775261 polymorphism was not a risk factor for the disease, the rs12532 AG and rs12532 GG genotypes were associated with NS-CL/P risk (OR = 2.82, 95% CI = 1.55-5.15, P = .001; and OR = 8.42, 95% CI = 2.26-31.29, P = .004, respectively). 23231047 2013
dbSNP: rs12532
rs12532
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0008924
Disease:
Cleft upper lip 		0.020 GeneticVariation BEFREE Although MSX1 rs3775261 polymorphism was not a risk factor for the disease, the rs12532 AG and rs12532 GG genotypes were associated with NS-CL/P risk (OR = 2.82, 95% CI = 1.55-5.15, P = .001; and OR = 8.42, 95% CI = 2.26-31.29, P = .004, respectively). 23231047 2013
dbSNP: rs12532
rs12532
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C4321245
Disease:
Cleft lip or lips 		0.020 GeneticVariation 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
dbSNP: rs12532
rs12532
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0008924
Disease:
Cleft upper lip 		0.020 GeneticVariation 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