Condition: Cleft upper lip


rs2151846 in ABCA4 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 20436469 2010 SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs2294426 in ADTRP gene and Cleft upper lip PMID 21618603 2011 Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.

rs1411701 in ARHGAP29 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs11072494 in ARID3B gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs6740960 in C2orf91 gene and Cleft upper lip PMID 28087736 2017 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

rs1030608 in CCDC26 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 19270707 2009 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

PMID 19656524 2009 A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

rs1470206 in CCDC26;LINC00976 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

rs68092024 in CMSS1;FILIP1L gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs1038294 in COL8A1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs7552 in CYRIA gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs78212183 in DEPDC5 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs7650184 in EPHA3 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs1339221 in ESRRG gene and Cleft upper lip PMID 29535761 2018 A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG.

rs13317 in FGFR1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1688766 in FILIP1L;CMSS1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs12681366 in FSBP;RAD54B gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs2073764 in GNB1L gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1838105 in GOSR2;LRRC37A2 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs2013162 in IRF6 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 25775280 2015 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

rs1044516 in IRF6;C1orf74 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

rs1784394 in JAM3;LOC107984040 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

rs3741442 in KRT18 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs12546244 in LINC00976;CCDC26 gene and Cleft upper lip PMID 19270707 2009 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs7692299 in LINC01091 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs17085106 in LINC01899 gene and Cleft upper lip PMID 19656524 2009 A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

rs6449957 in LINC02219 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs6495117 in LOC102723750;CLK3 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs11696257 in LOC102724968 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 20436469 2010 SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.

PMID 25775280 2015 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs11617692 in LOC105370275 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 20023658 2010 Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

PMID 30067744 2018 Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.

rs112800917 in LOC105373887 gene and Cleft upper lip PMID 28087736 2017 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

rs72804706 in LOC105378314 gene and Cleft upper lip PMID 30277614 2018 Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

rs10808812 in LOC107986952;ZFHX4-AS1 gene and Cleft upper lip PMID 28087736 2017 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

rs3746101 in MKNK2 gene and Cleft upper lip PMID 28087736 2017 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

rs5763674 in MTMR3 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs11066150 in NAA25 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1878918 in NRG1 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs12944377 in NTN1 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

PMID 25775280 2015 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs4920338 in PAX7 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs10512248 in PTCH1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs12229892 in PTPN11 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs9653456 in RANBP2 gene and Cleft upper lip PMID 29535761 2018 A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG.

rs705704 in RPS26;LOC105369780 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs6126344 in SALL4 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs4132699 in SEMA4D gene and Cleft upper lip PMID 28087736 2017 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs2006771 in SFI1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs10174126 in SH3BP4 gene and Cleft upper lip PMID 22419666 2012 Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.

rs6838801 in SHROOM3;LOC105377290 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs10886040 in SHTN1 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 25775280 2015 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

PMID 20023658 2010 Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

PMID 30067744 2018 Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

rs10133673 in SLC25A21 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs11774066 in STK3 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs11119388 in SYT14 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs1588366 in TANC2 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Cleft upper lip PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs13035011 in THADA gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 20023658 2010 Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

rs11582254 in TMCO4 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs2304269 in TMEM19 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs76479869 in TP63 gene and Cleft upper lip PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs17015169 in TRAF3IP3 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

rs745080 in TXNDC16 gene and Cleft upper lip PMID 22419666 2012 Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.

rs2289187 in UBL7 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs126280 in UTP25 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs6585429 in VAX1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs957448 in VIRMA gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1487022 in VPS13B gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs13542 in ZIC2 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.