PedAM
Pediatric Disease Annotations & Medicines
| scoliosis | ||||
| Disease ID | 500 |
|---|---|
| Disease | scoliosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:14) C0030193 | pain | 17 C0039144 | syringomyelia | 13 C0022821 | kyphosis | 9 C1839611 | n syndrome | 6 C0038016 | spondylolisthesis | 6 C1695776 | vertebral wedging | 3 C0085581 | restrictive lung disease | 3 C0009450 | infection | 3 C0002766 | analgesia | 3 C0032371 | poliomyelitis | 2 C0030201 | postoperative pain | 2 C0027868 | neuromuscular disorders | 2 C0221166 | paraparesis | 1 C0026837 | rigidity | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918274 | 16772357 | 64221 | ROBO3 | umls:C0036439 | BeFree | Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. | 0.01361182 | 2006 | ROBO3 | 11 | 124870650 | G | A,C |
| rs12946942 | 24023777 | 3759 | KCNJ2 | umls:C0036439 | BeFree | rs12946942 is on chromosome 17q24.3 near the genes SOX9 and KCNJ2, which when mutated cause scoliosis phenotypes. | 0.000271442 | 2013 | NA | 17 | 71240857 | G | T |
| rs281865136 | 16198564 | 1959 | EGR2 | umls:C0036439 | BeFree | Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. | 0.002995792 | 2005 | EGR2 | 10 | 62813562 | C | T |
| rs28935468 | 20032810 | 4204 | MECP2 | umls:C0036439 | BeFree | Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. | 0.005276948 | 2010 | MECP2 | X | 154030912 | G | A |
| rs4738824 | 17436250 | 55636 | CHD7 | umls:C0036439 | GAD | [CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.] | 0.005091382 | 2007 | CHD7 | 8 | 60777762 | A | G |
| rs61751362 | 20032810 | 4204 | MECP2 | umls:C0036439 | BeFree | Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. | 0.005276948 | 2010 | MECP2 | X | 154030948 | G | C,A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:16) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 2 | 7561886 | rs1367272 | C | T | rs1367272 | 24023777 | 1.77E-04 | Allele,GWAS stage only | 1.22 | [1.10-1.35] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | T | LOC100506274 |
| 3 | 191047 | rs10510181 | G | A | rs10510181 | 21216876 | 8.00E-07 | EA | 1.37 | [1.20-1.58] | 1,122 individuals from 419 families | NOPOP(1122) | ALL(1122) | NOPOP(1122) | ALL(1122) | Adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | rs10510181-A | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
| 4 | 127970055 | rs17012036 | A | G | rs17012036 | 24023777 | 8.45E-05 | Dominant,GWAS stage only | 1.33 | [1.15-1.53] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | A | NA |
| 5 | 8328783 | rs925203 | G | T | rs925203 | 24023777 | 1.46E-04 | Allele,GWAS stage only | 1.22 | [1.10-1.34] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | G | NA |
| 5 | 36056800 | rs2047176 | C | T | rs2047176 | 24023777 | 1.95E-06 | Allele,GWAS stage only | 1.28 | [1.15-1.41] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | C | UGT3A2 |
| 5 | 36143392 | rs267766 | C | T | rs267766 | 24023777 | 4.30E-06 | Allele,GWAS stage only | 1.29 | [1.16-1.44] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | T | LMBRD2 |
| 6 | 6013003 | rs9405284 | C | T | rs9405284 | 24023777 | 3.21E-05 | Recessive,GWAS stage only | 1.35 | [1.17-1.56] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | C | NA |
| 6 | 142669338 | rs9496346 | A | G | rs9496346 | 24023777 | 1.00E-08 | Allele,GWAS stage only | 1.34 | [1.21-1.48] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | G | GPR126 |
| 6 | 142679572 | rs6570507 | G | A | rs6570507 | 24023777 | 3.78E-08 | Allele,GWAS stage only | 1.32 | [1.20-1.46] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | A | GPR126 |
| 10 | 87650378 | rs7895098 | G | A | rs7895098 | 24023777 | 5.04E-05 | Allele,GWAS stage only | 1.38 | [1.18-1.62] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | A | GRID1 |
| 10 | 102964604 | rs11598564 | G | A | rs11598564 | 24023777 | 9.77E-12 | Allele,GWAS stage only | 1.42 | [1.28-1.57] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | A | NA |
| 10 | 102979207 | rs11190870 | T | C | rs11190870 | 24023777 | 2.80E-18 | Allele,GWAS stage only | 1.6 | [1.44-1.78] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | T | NA |
| 10 | 102993649 | rs625039 | G | A | rs625039 | 24023777 | 1.28E-15 | Allele,GWAS stage only | 1.58 | [1.41-1.77] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | G | FLJ41350 |
| 11 | 126151242 | rs655540 | T | C | rs655540 | 24023777 | 4.34E-05 | Recessive,GWAS stage only | 1.51 | [1.24-1.84] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | A | TIRAP |
| 17 | 69236998 | rs12946942 | G | T | rs12946942 | 24023777 | 6.00E-12 | NA | 2.21 | [1.76-2.77] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | rs12946942-T | NA | G | NA |
| 20 | 11426730 | rs10485749 | A | G | rs10485749 | 24023777 | 1.65E-04 | Allele,GWAS stage only | 1.23 | [1.10-1.37] | 554 Japanese ancestry cases; 1,474 Japanese ancestry controls | Japanese(2028) | ALL(2028) | ASN(2028) | ALL(2028) | adolescent idiopathic scoliosis | HPOID:0002650 | Scoliosis | DOID:0080010 | bone structure disease | NA | NA | NA | NA | Bone disease | NA | NA | 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:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0036439 | baclofen | D001418 | 1134-47-0 | scoliosis | MESH:D012600 | marker/mechanism | 18007255 | ||
| C0036439 | caffeine | D002110 | 1958/8/2 | scoliosis | MESH:D012600 | marker/mechanism | 23774253 | ||
| C0036439 | thalidomide | D013792 | 50-35-1 | scoliosis | MESH:D012600 | marker/mechanism | 6989723 | ||
| C0036439 | tretinoin | D014212 | 302-79-4 | scoliosis | MESH:D012600 | marker/mechanism | 23774253 | ||
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.) | |