PedAM
Pediatric Disease Annotations & Medicines
| ehlers-danlos syndrome | ||||
| Disease ID | 627 |
|---|---|
| Disease | ehlers-danlos syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0238045 | carotid-cavernous fistula | 5 C0002940 | aneurysms | 5 C0016169 | fistula | 5 C0002940 | aneurysm | 4 C0014544 | epilepsy | 2 C1393529 | vascular complications | 2 C0267373 | intestinal bleeding | 1 C0018944 | hematoma | 1 C0029408 | osteoarthritis | 1 C0152025 | polyneuropathy | 1 C0679401 | vascular rupture | 1 C0021845 | intestinal perforation | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912932 | 10602121 | 1289 | COL5A1 | umls:C0013720 | BeFree | Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? | 0.015501981 | 2000 | COL5A1;LOC101448202 | 9 | 134820135 | G | A |
| rs28937869 | 16583246 | 11285 | B4GALT7 | umls:C0013720 | BeFree | Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). | 0.007891677 | 2006 | B4GALT7 | 5 | 177608994 | C | T |
| rs61735045 | 11992482 | 1289 | COL5A1 | umls:C0013720 | BeFree | Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. | 0.015501981 | 2002 | COL5A1 | 9 | 134750808 | G | A |
| rs61735045 | 10602121 | 1289 | COL5A1 | umls:C0013720 | BeFree | Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? | 0.015501981 | 2000 | COL5A1 | 9 | 134750808 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
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:0) | |
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| (Waiting for update.) | |
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.) | |