PedAM
Pediatric Disease Annotations & Medicines
| fetal alcohol syndrome | ||||
| Disease ID | 148 |
|---|---|
| Disease | fetal alcohol syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:32) HP:0002230 | Generalized hirsutism HP:0000708 | Behavioral abnormality HP:0004422 | Biparietal narrowing HP:0007477 | Abnormal dermatoglyphics HP:0001263 | Global developmental delay HP:0000286 | Epicanthus HP:0004322 | Short stature HP:0000347 | Micrognathia HP:0003422 | Vertebral segmentation defect HP:0000219 | Thin upper lip vermilion HP:0001631 | Atrial septal defect HP:0003196 | Short nose HP:0010978 | Abnormality of immune system physiology HP:0000486 | Strabismus HP:0100543 | Cognitive impairment HP:0000508 | Ptosis HP:0000691 | Microdontia HP:0000319 | Smooth philtrum HP:0000506 | Telecanthus HP:0000275 | Narrow face HP:0100335 | Non-midline cleft lip HP:0001328 | Specific learning disability HP:0000776 | Congenital diaphragmatic hernia HP:0000368 | Low-set, posteriorly rotated ears HP:0001511 | Intrauterine growth retardation HP:0100761 | Visceral angiomatosis HP:0000252 | Microcephaly HP:0001249 | Intellectual disability HP:0000463 | Anteverted nares HP:0001387 | Joint stiffness HP:0000175 | Cleft palate HP:0000568 | Microphthalmia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001249 | Mental retardation | 2 HP:0001321 | Small cerebellum | 1 HP:0001627 | Congenital heart defects | 1 HP:0000998 | Hypertrichosis | 1 HP:0001510 | Growth deficiency | 1 HP:0002126 | Polymicrogyria | 1 |
| Disease ID | 148 |
|---|---|
| Disease | fetal alcohol syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C0850497 | immune deficiency C0796095 | c syndrome C0752303 | urological manifestations C0239946 | hepatic fibrosis C0152439 | retinoschisis C0151747 | renal tubular dysfunction C0034194 | pyloric stenosis C0029166 | oral manifestations C0025958 | microcephaly C0021847 | intestinal pseudoobstruction C0015411 | eye manifestations C0008445 | stippled epiphyses C0004352 | autism |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1800477 | 17561354 | 355 | FAS | umls:C0015923 | BeFree | Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. | 0.003800186 | 2007 | BCL2 | 18 | 63318540 | C | T |
| rs3218619 | 17561354 | 355 | FAS | umls:C0015923 | BeFree | Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. | 0.003800186 | 2007 | FAS;LOC105378417 | 10 | 89003044 | G | A |
| rs3218619 | 17912028 | 355 | FAS | umls:C0015923 | BeFree | Genotyping of BCL2 (ala43thr), FAS (A-670G), CCND1 (G870A), EGF (+61A/G) and EGFR (G497A) polymorphisms were determined using the polymerase chain reaction followed by restriction fragment length polymorphism methodology. | 0.003800186 | 2007 | FAS;LOC105378417 | 10 | 89003044 | G | A |
| rs370426812 | 17912028 | 355 | FAS | umls:C0015923 | BeFree | Genotyping of BCL2 (ala43thr), FAS (A-670G), CCND1 (G870A), EGF (+61A/G) and EGFR (G497A) polymorphisms were determined using the polymerase chain reaction followed by restriction fragment length polymorphism methodology. | 0.003800186 | 2007 | FAS | 10 | 89014312 | G | A |
| rs370426812 | 17561354 | 355 | FAS | umls:C0015923 | BeFree | Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. | 0.003800186 | 2007 | FAS | 10 | 89014312 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001395 | Hepatic fibrosis | MP:0003333 | liver fibrosis;HP:0002021 | Pyloric stenosis |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0030502 | Retinoschisis | MP:0005240 | abnormal amacrine cell morphology;HP:0000717 | Autism |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0015923 | folic acid | D005492 | 59-30-3 | fetal alcohol spectrum disorders | MESH:D063647 | marker/mechanism | 22666445 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |