rs12532, MSX1

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cleft lip or lips
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
Cleft upper lip
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
Cleft lip or lips
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
Cleft upper lip
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
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
0.010 GeneticVariation BEFREE Association between MSX1 rs12532 polymorphism with nonsyndromic unilateral complete cleft lip and palate and tooth agenesis. 31568994 2020
Agenesis
CUI: C0000846
Disease: Agenesis
0.010 GeneticVariation BEFREE Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis, further studies with additional SNPs and a more diverse ethnic cohort are warranted. 31568994 2020
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
0.010 GeneticVariation BEFREE In an analysis stratified according to disease type, rs12532 was associated with the risk of cleft palate only (CPO) but not with the risk of cleft lip with or without cleft palate (CL/P). 29664137 2018
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
0.010 GeneticVariation BEFREE In an analysis stratified according to disease type, rs12532 was associated with the risk of cleft palate only (CPO) but not with the risk of cleft lip with or without cleft palate (CL/P). 29664137 2018
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
0.010 GeneticVariation BEFREE In an analysis stratified according to disease type, rs12532 was associated with the risk of cleft palate only (CPO) but not with the risk of cleft lip with or without cleft palate (CL/P). 29664137 2018
Cleft Lip with or without Cleft Palate
0.010 GeneticVariation BEFREE In an analysis stratified according to disease type, rs12532 was associated with the risk of cleft palate only (CPO) but not with the risk of cleft lip with or without cleft palate (CL/P). 29664137 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE However, the T allele and T carrier (TC + CC) of rs12532 and rs8670 showed no association with cancer susceptibility. 25501212 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE However, the T allele and T carrier (TC + CC) of rs12532 and rs8670 showed no association with cancer susceptibility. 25501212 2014