eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cleft palate | ||||
| Disease ID | 118 |
|---|---|
| Disease | cleft palate |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:52) C2029884 | hearing loss C1963139 | hypopigmentation C1839611 | n syndrome C1660219 | analgesia C1550639 | fistula C1533692 | tooth eruption C1527344 | phonation disorders C1442871 | craniosynostosis C1384666 | hearing impairment C0796110 | w syndrome C0796095 | c syndrome C0751513 | rhinolalia C0751265 | learning disabilities C0581883 | deafness C0344290 | vitreoretinal degeneration C0271468 | disorders of the eustachian tube C0271454 | chronic suppurative otitis media C0267048 | glossoptosis C0266075 | mandibular prognathism C0265255 | trichorhinophalangeal syndrome C0264614 | hypernasality C0264261 | rhinolith C0260662 | hearing disorders C0234848 | nasal snort C0234839 | pharyngeal stop C0220726 | diastrophic dwarfism C0042454 | velopharyngeal insufficiency C0039538 | teratomas C0039538 | teratoma C0037822 | speech disorders C0037199 | sinusitis C0031090 | periodontal disease C0030044 | oxycephaly C0029883 | secretory otitis media C0029883 | otitis media with effusion C0029883 | middle ear effusions C0029883 | middle ear effusion C0029882 | otitis media C0024959 | maxillary sinusitis C0023798 | lipoma C0021141 | syndrome of inappropriate secretion of antidiuretic hormone C0020635 | pituitary insufficiency C0018777 | conductive hearing loss C0013575 | ectodermal dysplasia C0013447 | ear disorders C0013447 | ear diseases C0013447 | ear disease C0013336 | dwarfism C0011168 | dysphagia C0008924 | cleft lip C0008298 | polyp of the nasopharynx C0003910 | articulation disorders |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:18) C0008924 | cleft lip | 274 C0029882 | otitis media | 11 C0042454 | velopharyngeal insufficiency | 11 C0016169 | fistula | 9 C0039538 | teratoma | 7 C0037822 | speech disorders | 4 C0264614 | hypernasality | 4 C0029883 | otitis media with effusion | 4 C0029883 | secretory otitis media | 3 C1839611 | n syndrome | 3 C1384666 | hearing loss | 3 C0029883 | middle ear effusion | 2 C0003910 | articulation disorders | 1 C0796095 | c syndrome | 1 C0013575 | ectodermal dysplasia | 1 C0267048 | glossoptosis | 1 C0260662 | hearing disorders | 1 C0271454 | chronic suppurative otitis media | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:27) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10174126 | 22419666 | 23677 | SH3BP4 | umls:C0008925 | GAD | [Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.] | 0.002367032 | 2012 | SH3BP4 | 2 | 235052249 | T | C |
| rs11624283 | 20572854 | 3714 | JAG2 | umls:C0008925 | BeFree | The strongest association with nonsyndromic cleft palate (CP) was found for the SNP rs11624283 in the JAG2 gene. | 0.007372538 | 2010 | NA | 14 | 105124634 | A | G |
| rs12532 | 21689018 | 4487 | MSX1 | umls:C0008925 | 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. | 0.150823616 | 2011 | MSX1 | 4 | 4863419 | A | G |
| rs13041247 | 20436469 | 3664 | IRF6 | umls:C0008925 | BeFree | 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. | 0.163854164 | 2010 | NA | 20 | 40640434 | T | C |
| rs16260 | 20880515 | 999 | CDH1 | umls:C0008925 | BeFree | cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (CPO) groups were significantly different with those in the controls (P=0.004) and rs16260 AA genotype significantly increased the risk of CPO by 5.90-fold (OR=6.90, 95% CI=1.47-32.40), providing the first evidence of CDH1 genetic variation in the etiology of CPO. | 0.005276948 | 2011 | CDH1 | 16 | 68737131 | C | A |
| rs16430 | 23404871 | 7298 | TYMS | umls:C0008925 | BeFree | We investigated two TYMS functional variants (a 28-bp tandem repeat in the promoter enhancer region of the 5'-UTR; and TYMS 1494del6 (rs16430): a 6-bp deletion in the 3'-UTR) for their risk of cleft palate (CP) and of cleft lip with/without CP (CLP). | 0.122638474 | 2013 | NA | NA | NA | NA | NA |
| rs17138064 | 22419666 | 79922 | MRM1 | umls:C0008925 | GAD | [Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.] | 0.002367032 | 2012 | NA | 17 | 36831827 | G | A |
| rs17807815 | 22419666 | 4287 | ATXN3 | umls:C0008925 | GAD | [Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.] | 0.002367032 | 2012 | ATXN3 | 14 | 92089711 | T | C |
| rs1810132 | 18978678 | 2064 | ERBB2 | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.002367032 | 2008 | ERBB2 | 17 | 39709752 | C | T |
| rs2166975 | 17272867 | 7039 | TGFA | umls:C0008925 | BeFree | Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (p = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). | 0.026003676 | 2007 | TGFA | 2 | 70450862 | G | A |
| rs221430 | 18978678 | 9369 | NRXN3 | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.002367032 | 2008 | NRXN3;LOC105370583 | 14 | 79601778 | T | C |
| rs2215502 | 18978678 | 1000 | CDH2 | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.002367032 | 2008 | NA | 18 | 28204055 | T | C |
| rs2235371 | 19115793 | 3664 | IRF6 | umls:C0008925 | BeFree | Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. | 0.163854164 | 2009 | IRF6 | 1 | 209790735 | C | T |
| rs2536143 | 18978678 | 8110 | DPF3 | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.002367032 | 2008 | DPF3 | 14 | 72718325 | A | T |
| rs28999109 | 19092777 | 56034 | PDGFC | umls:C0008925 | GAD | [The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.] | 0.002367032 | 2009 | PDGFC | 4 | 156971889 | G | A |
| rs3821949 | 21689018 | 4487 | MSX1 | umls:C0008925 | 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. | 0.150823616 | 2011 | MSX1 | 4 | 4858675 | G | A |
| rs4703822 | 22419666 | 5924 | RASGRF2 | umls:C0008925 | GAD | [Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.] | 0.002367032 | 2012 | RASGRF2 | 5 | 81115402 | G | A |
| rs4742741 | 18978678 | 203286 | ANKS6 | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.002367032 | 2008 | ANKS6 | 9 | 98777319 | G | A |
| rs4817579 | 18978678 | 2618 | GART | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.002367032 | 2008 | GART | 21 | 33537914 | T | C |
| rs522616 | 22730240 | 7077 | TIMP2 | umls:C0008925 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.002638474 | 2012 | MMP3 | 11 | 102844317 | T | C |
| rs522616 | 22730240 | 4314 | MMP3 | umls:C0008925 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.002909916 | 2012 | MMP3 | 11 | 102844317 | T | C |
| rs560426 | 20436469 | 3664 | IRF6 | umls:C0008925 | BeFree | 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. | 0.163854164 | 2010 | ABCA4 | 1 | 94087882 | C | T |
| rs674433 | 18978678 | 3664 | IRF6 | umls:C0008925 | GAD | [These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.] | 0.163854164 | 2008 | IRF6 | 1 | 209791530 | G | T |
| rs7205289 | 22012839 | 406932 | MIR140 | umls:C0008925 | BeFree | We concluded that infants with CA/AA genotypes at rs7205289 and maternal passive smoking during the first trimester may synergistically contribute to cleft palate risk by decreasing microRNA-140 during palatal development. | 0.003181358 | 2011 | WWP2;MIR140 | 16 | 69933102 | C | A |
| rs745080 | 22419666 | 57544 | TXNDC16 | umls:C0008925 | GAD | [Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.] | 0.002367032 | 2012 | TXNDC16 | 14 | 52522510 | G | A |
| rs8179096 | 22730240 | 7077 | TIMP2 | umls:C0008925 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.002638474 | 2012 | TIMP2 | 17 | 78925567 | G | A |
| rs8179096 | 22730240 | 4314 | MMP3 | umls:C0008925 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.002909916 | 2012 | TIMP2 | 17 | 78925567 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:48) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 4 | 9938969 | rs4447863 | T | C | rs4447863 | 24516586 | 1.61E-04 | (LRT 2 df) | 2.07 | [1.32-3.25] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9938969 | rs4447863 | T | C | rs4447863 | 24516586 | 2.94E-05 | (LRT 1 df) | 2.07 | [1.32-3.25] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9948564 | rs998676 | T | C | rs998676 | 24516586 | 1.36E-05 | (LRT 1 df) | 2.07 | [1.32-3.25] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9948564 | rs998676 | T | C | rs998676 | 24516586 | 7.51E-05 | (LRT 2 df) | 2.07 | [1.32-3.25] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9958719 | rs6849717 | T | C | rs6849717 | 24516586 | 5.07E-05 | (LRT 2 df) | 2.26 | [1.44-3.55] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9958719 | rs6849717 | T | C | rs6849717 | 24516586 | 9.01E-06 | (LRT 1 df) | 2.26 | [1.44-3.55] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9980462 | rs11723970 | T | C | rs11723970 | 24516586 | 4.67E-05 | (LRT 2 df) | 2.21 | [1.42-3.46] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9980462 | rs11723970 | T | C | rs11723970 | 24516586 | 8.14E-06 | (LRT 1 df) | 2.21 | [1.42-3.46] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9990328 | rs17187075 | G | C | rs17187075 | 24516586 | 1.38E-06 | (LRT 1 df) | 2.48 | [1.56-3.95] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9990328 | rs17187075 | G | C | rs17187075 | 24516586 | 8.22E-06 | (LRT 2 df) | 2.48 | [1.56-3.95] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9995376 | rs12499857 | G | A | rs12499857 | 24516586 | 1.36E-06 | (LRT 1 df) | 2.46 | [1.53-3.95] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9995376 | rs12499857 | G | A | rs12499857 | 24516586 | 8.57E-06 | (LRT 2 df) | 2.46 | [1.53-3.95] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9998440 | rs10939650 | C | T | rs10939650 | 24516586 | 1.22E-05 | (LRT 1 df) | 2.46 | [1.56-3.88] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 9998440 | rs10939650 | C | T | rs10939650 | 24516586 | 3.91E-05 | (LRT 2 df) | 2.46 | [1.56-3.88] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10003395 | rs4622999 | C | G | rs4622999 | 24516586 | 1.28E-06 | (LRT 1 df) | 2.46 | [1.53-3.95] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10003395 | rs4622999 | C | G | rs4622999 | 24516586 | 8.08E-06 | (LRT 2 df) | 2.46 | [1.53-3.95] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10004000 | rs7657096 | A | G | rs7657096 | 24516586 | 2.03E-05 | (LRT 1 df) | 2.33 | [1.49-3.66] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10004000 | rs7657096 | A | G | rs7657096 | 24516586 | 7.74E-05 | (LRT 2 df) | 2.33 | [1.49-3.66] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10006537 | rs10022499 | C | A | rs10022499 | 24516586 | 1.60E-05 | (LRT 1 df) | 2.37 | [1.51-3.72] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10006537 | rs10022499 | C | A | rs10022499 | 24516586 | 5.87E-05 | (LRT 2 df) | 2.37 | [1.51-3.72] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10006663 | rs10016075 | G | T | rs10016075 | 24516586 | 2.15E-05 | (LRT 1 df) | 2.33 | [1.49-3.66] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10006663 | rs10016075 | G | T | rs10016075 | 24516586 | 8.24E-05 | (LRT 2 df) | 2.33 | [1.49-3.66] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10021151 | rs2240723 | G | A | rs2240723 | 24516586 | 3.93E-05 | (LRT 2 df) | 2.32 | [1.49-3.62] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10021151 | rs2240723 | G | A | rs2240723 | 24516586 | 8.81E-06 | (LRT 1 df) | 2.32 | [1.49-3.62] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10036339 | rs3733585 | A | G | rs3733585 | 24516586 | 2.00E-06 | (LRT 2 df) | 2.58 | [1.61-4.14] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10036339 | rs3733585 | A | G | rs3733585 | 24516586 | 2.26E-07 | (LRT 1 df) | 2.58 | [1.61-4.14] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10041104 | rs12508991 | C | T | rs12508991 | 24516586 | 1.52E-06 | (LRT 2 df) | 2.58 | [1.61-4.14] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10041104 | rs12508991 | C | T | rs12508991 | 24516586 | 2.26E-07 | (LRT 1 df) | 2.58 | [1.61-4.14] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10050141 | rs733175 | C | T | rs733175 | 24516586 | 1.89E-06 | (LRT 1 df) | 2.71 | [1.70-4.33] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10050141 | rs733175 | C | T | rs733175 | 24516586 | 6.12E-06 | (LRT 2 df) | 2.71 | [1.70-4.33] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10062326 | rs6834555 | G | A | rs6834555 | 24516586 | 2.28E-06 | (LRT 1 df) | 2.75 | [1.72-4.39] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10062326 | rs6834555 | G | A | rs6834555 | 24516586 | 5.61E-06 | (LRT 2 df) | 2.75 | [1.72-4.39] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10062849 | rs6820756 | A | G | rs6820756 | 24516586 | 1.79E-06 | (LRT 1 df) | 2.75 | [1.72-4.39] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10062849 | rs6820756 | A | G | rs6820756 | 24516586 | 4.93E-06 | (LRT 2 df) | 2.75 | [1.72-4.39] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10080462 | rs2241469 | A | C | rs2241469 | 24516586 | 1.97E-05 | (LRT 1 df) | 2.36 | [1.48-3.77] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10080462 | rs2241469 | A | C | rs2241469 | 24516586 | 8.73E-05 | (LRT 2 df) | 2.36 | [1.48-3.77] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10099814 | rs2241482 | A | G | rs2241482 | 24516586 | 1.06E-04 | (LRT 2 df) | 2.37 | [1.47-3.83] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10099814 | rs2241482 | A | G | rs2241482 | 24516586 | 2.31E-05 | (LRT 1 df) | 2.37 | [1.47-3.83] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10104670 | rs717615 | A | G | rs717615 | 24516586 | 1.67E-05 | (LRT 2 df) | 2.42 | [1.50-3.89] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10104670 | rs717615 | A | G | rs717615 | 24516586 | 2.73E-06 | (LRT 1 df) | 2.42 | [1.50-3.89] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10110605 | rs4697922 | T | C | rs4697922 | 24516586 | 1.58E-05 | (LRT 1 df) | 2.43 | [1.50-3.96] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10110605 | rs4697922 | T | C | rs4697922 | 24516586 | 7.70E-05 | (LRT 2 df) | 2.43 | [1.50-3.96] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10125808 | rs7699512 | C | T | rs7699512 | 24516586 | 1.98E-06 | (LRT 1 df) | 2.11 | [1.34-3.30] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10125808 | rs7699512 | C | T | rs7699512 | 24516586 | 9.90E-06 | (LRT 2 df) | 2.11 | [1.34-3.30] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10273244 | rs10489072 | T | C | rs10489072 | 24516586 | 4.08E-04 | (LRT 2 df) | 1.97 | [1.27-3.05] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10273244 | rs10489072 | T | C | rs10489072 | 24516586 | 7.81E-05 | (LRT 1 df) | 1.97 | [1.27-3.05] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10275982 | rs6833142 | A | G | rs6833142 | 24516586 | 4.65E-04 | (LRT 2 df) | 1.97 | [1.27-3.05] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
| 4 | 10275982 | rs6833142 | A | G | rs6833142 | 24516586 | 8.98E-05 | (LRT 1 df) | 1.97 | [1.27-3.05] | 259 Asian ancestry cases and their unaffected parents; 272 European ancestry cases and their unaffected parents; 19 cases and their unaffected parents | NOPOP(19) | Asia(259) | European(272) | ALL(550) | NOPOP(19) | ASN(259) | EUR(272) | ALL(550) | Cleft palate (environmental tobacco smoke interaction) | HPOID:0000175 | Cleft palate | DOID:674 | cleft palate | NA | NA | NA | NA | NA |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0100335 | Non-midline cleft lip | MP:0008797 | facial cleft | a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100335 | Non-midline cleft lip | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| Disease ID | 118 |
|---|---|
| Disease | cleft palate |
| Case | (Waiting for update.) |