astigmatism |
Disease ID | 667 |
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Disease | astigmatism |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0027092 | myopia | 23 C0034951 | refractive error | 4 C0003081 | anisometropia | 2 C0034951 | refractive errors | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs10189905 | 22144915 | 5334 | PLCL1 | umls:C0004106 | GAD | [Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.] | 0.002367032 | 2011 | NA | 2 | 198814386 | T | G |
rs2270676 | 22144915 | 10008 | KCNE3 | umls:C0004106 | GAD | [Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.] | 0.002367032 | 2011 | KCNE3 | 11 | 74457366 | A | G |
rs6758183 | 22144915 | 57624 | NYAP2 | umls:C0004106 | GAD | [Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.] | 0.002367032 | 2011 | NA | 2 | 226136270 | G | A |
rs6792584 | 22144915 | 8801 | SUCLG2 | umls:C0004106 | GAD | [Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.] | 0.002367032 | 2011 | SUCLG2 | 3 | 67480964 | G | A |
rs7677751 | 22144915 | 5156 | PDGFRA | umls:C0004106 | GAD | [Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.] | 0.002367032 | 2011 | PDGFRA | 4 | 54258293 | C | T |
rs7866070 | 20585627 | 51450 | PRRX2 | umls:C0004106 | GAD | [Web-based, participant-driven studies yield novel genetic associations for common traits.] | 0.002367032 | 2010 | PRRX2 | 9 | 129681820 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:33) | |||||||||||||||||||||||||||||
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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 |
1 | 28262409 | rs4409675 | A | T | rs4409675 | 23322567 | 2.00E-06 | NA | 0.06 | [NA] unit decrease | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs4409675-T | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
1 | 175715606 | rs17312292 | G | C | rs17312292 | 23322567 | 7.00E-06 | NA | 0.88 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs17312292-C | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
2 | 71133014 | rs3771395 | G | A | rs3771395 | 23322567 | 2.00E-07 | NA | 0.08 | [NA] unit decrease | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs3771395-G | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
2 | 137768702 | rs979976 | A | C | rs979976 | 23761726 | 8.00E-06 | NA | 0.13 | [0.075-0.193] unit increase | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs979976-A | Research Support, Non-U.S. Gov't | A | THSD7B |
2 | 137769420 | rs2116538 | G | A | rs2116538 | 23761726 | 1.63E-05 | NA | 0.15 | [0.08-0.21] unit decrease | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs2116538-A | Research Support, Non-U.S. Gov't | G | THSD7B |
2 | 199679110 | rs10189905 | T | G | rs10189905 | 22144915 | 6.00E-07 | NA | 1.32 | [1.18-1.46] | 1,231 Chinese ancestry cases; 785 Chinese ancestry controls; 1,018 Malaysian ancestry cases; 1,220 Malaysian ancestry controls | Malaysian(2238) | Chinese(2016) | ALL(4254) | ASN(4254) | ALL(4254) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | NA | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 227000986 | rs6758183 | G | A | rs6758183 | 22144915 | 3.00E-06 | NA | 1.39 | [1.21-1.57] | 1,231 Chinese ancestry cases; 785 Chinese ancestry controls; 1,018 Malaysian ancestry cases; 1,220 Malaysian ancestry controls | Malaysian(2238) | Chinese(2016) | ALL(4254) | ASN(4254) | ALL(4254) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs6758183-A | Meta-Analysis | Research Support, Non-U.S. Gov't |
3 | 65326882 | rs6764388 | T | C | rs6764388 | 23322567 | 6.00E-06 | NA | 0.05 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs6764388-T | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
3 | 67531388 | rs6792584 | G | A | rs6792584 | 22144915 | 5.00E-06 | NA | 1.24 | [1.14-1.34] | 1,231 Chinese ancestry cases; 785 Chinese ancestry controls; 1,018 Malaysian ancestry cases; 1,220 Malaysian ancestry controls | Malaysian(2238) | Chinese(2016) | ALL(4254) | ASN(4254) | ALL(4254) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs6792584-G | Meta-Analysis | Research Support, Non-U.S. Gov't |
3 | 109462400 | rs1164064 | G | A | rs1164064 | 23761726 | 2.00E-06 | NA | 0.13 | [0.079-0.189] unit increase | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs1164064-A | Research Support, Non-U.S. Gov't | G | NA |
3 | 156336555 | rs7651778 | C | T | rs7651778 | 23761726 | 5.00E-06 | NA | 0.13 | [0.071-0.181] unit increase | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs7651778-C | Research Support, Non-U.S. Gov't | C | NA |
4 | 55087581 | rs17084051 | C | A | rs17084051 | 22144915 | 2.00E-06 | NA | 1.21 | [1.13-1.29] | 1,231 Chinese ancestry cases; 785 Chinese ancestry controls; 1,018 Malaysian ancestry cases; 1,220 Malaysian ancestry controls | Malaysian(2238) | Chinese(2016) | ALL(4254) | ASN(4254) | ALL(4254) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs17084051-A | Meta-Analysis | Research Support, Non-U.S. Gov't |
4 | 55124460 | rs7677751 | C | T | rs7677751 | 22144915 | 8.00E-09 | NA | 1.26 | [1.18-1.34] | 1,231 Chinese ancestry cases; 785 Chinese ancestry controls; 1,018 Malaysian ancestry cases; 1,220 Malaysian ancestry controls | Malaysian(2238) | Chinese(2016) | ALL(4254) | ASN(4254) | ALL(4254) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs7677751-T | Meta-Analysis | Research Support, Non-U.S. Gov't |
4 | 120187611 | rs11098499 | C | T | rs11098499 | 23322567 | 9.00E-06 | NA | 0.05 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs11098499-C | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
5 | 13798559 | rs795544 | A | C | rs795544 | 23322567 | 1.00E-06 | NA | 0.06 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | NA | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
5 | 32975490 | rs10079889 | A | G | rs10079889 | 23761726 | 1.38E-05 | NA | 0.14 | [0.08-0.21] unit increase | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs10079889-A | Research Support, Non-U.S. Gov't | G | NA |
6 | 67248410 | rs9445732 | G | T | rs9445732 | 23322567 | 2.00E-06 | NA | 1.28 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs9445732-G | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
6 | 169820381 | rs438465 | T | C | rs438465 | 23761726 | 7.00E-06 | NA | 0.17 | [0.097-0.249] unit decrease | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs438465-C | Research Support, Non-U.S. Gov't | C | NA |
7 | 155837295 | rs10226930 | T | C | rs10226930 | 23322567 | 8.00E-07 | NA | 1.38 | [NA] unit decrease | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs10226930-C | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
8 | 15197417 | rs12676170 | A | G | rs12676170 | 23322567 | 8.00E-06 | NA | 0.05 | [NA] unit decrease | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs12676170-A | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
9 | 16970809 | rs4961511 | G | T | rs4961511 | 23322567 | 9.00E-06 | NA | 0.05 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs4961511-G | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
10 | 10388195 | rs7092703 | C | T | rs7092703 | 23322567 | 3.00E-06 | NA | 0.05 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs7092703-C | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
10 | 60318897 | rs1658442 | G | A | rs1658442 | 23322567 | 3.00E-06 | NA | 0.06 | [NA] unit decrease | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs1658442-A | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
11 | 74168411 | rs2270676 | A | G | rs2270676 | 22144915 | 5.00E-06 | NA | 1.29 | [1.17-1.41] | 1,231 Chinese ancestry cases; 785 Chinese ancestry controls; 1,018 Malaysian ancestry cases; 1,220 Malaysian ancestry controls | Malaysian(2238) | Chinese(2016) | ALL(4254) | ASN(4254) | ALL(4254) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs2270676-G | Meta-Analysis | Research Support, Non-U.S. Gov't |
11 | 96023214 | rs485842 | C | T | rs485842 | 23322567 | 2.00E-06 | NA | 0.06 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs485842-A | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
12 | 32097360 | rs1151008 | G | T | rs1151008 | 23761726 | 1.00E-06 | NA | 0.14 | [0.085-0.203] unit decrease | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs1151008-G | Research Support, Non-U.S. Gov't | G | NA |
13 | 76249103 | rs11841001 | G | A | rs11841001 | 23761726 | 4.00E-06 | NA | 0.21 | [0.12-0.30] unit increase | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs11841001-A | Research Support, Non-U.S. Gov't | G | LMO7 |
14 | 101539384 | rs7147503 | C | T | rs7147503 | 23322567 | 5.00E-06 | NA | 0.05 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs7147503-C | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
15 | 101721892 | rs12593811 | T | C | rs12593811 | 23322567 | 7.00E-06 | NA | 0.23 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs12593811-T | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
16 | 17739692 | rs12445126 | G | A | rs12445126 | 23322567 | 2.00E-06 | NA | 0.09 | [NA] unit decrease | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs12445126-G | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
16 | 80305551 | rs11859036 | C | A | rs11859036 | 23761726 | 7.00E-06 | NA | 0.13 | [0.071-0.185] unit increase | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs11859036-A | Research Support, Non-U.S. Gov't | C | NA |
16 | 86485131 | rs11644988 | G | A | rs11644988 | 23322567 | 2.00E-06 | NA | 0.13 | [NA] unit increase | 22,100 European ancestry individuals | European(22100) | ALL(22100) | EUR(22100) | ALL(22100) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs11644988-G | Twin Study | Research Support, N.I.H., Extramural | Meta-Analysis |
19 | 30088393 | rs4805442 | A | G | rs4805442 | 23761726 | 1.18E-05 | NA | 0.17 | [0.09-0.24] unit decrease | 2,784 European ancestry individuals | European(2784) | ALL(2784) | EUR(2784) | ALL(2784) | Corneal astigmatism | HPOID:0000483 | Astigmatism | DOID:10124 | corneal disease | D001251 | Astigmatism | EFOID:0004222 | astigmatism | Corneal disease | rs4805442-A | Research Support, Non-U.S. Gov't | G | NA |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0004106 | valproic acid | D014635 | 99-66-1 | astigmatism | MESH:D001251 | marker/mechanism | 11986102 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |