PedAM
Pediatric Disease Annotations & Medicines
| megacolon | ||||
| Disease ID | 1474 |
|---|---|
| Disease | megacolon |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002583 | Colitis | 8 HP:0002580 | Volvulus | 3 HP:0002586 | Peritonitis | 2 HP:0100279 | Ulcerative colitis | 2 HP:0002019 | Dyschezia | 2 HP:0007002 | Motor axonal neuropathy | 1 HP:0100282 | Acute colitis | 1 HP:0004389 | Intestinal pseudo-obstruction | 1 HP:0002251 | Hirschsprung megacolon | 1 HP:0003270 | Distended abdomen | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001297 | Cerebral vascular events | 1 HP:0001733 | Pancreatic inflammation | 1 HP:0012450 | Chronic constipation | 1 HP:0100280 | Morbus Crohn | 1 HP:0002595 | Gastrointestinal atony | 1 HP:0002014 | Diarrhea | 1 |
| Disease ID | 1474 |
|---|---|
| Disease | megacolon |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs74315514 | 16921166 | 6663 | SOX10 | umls:C0025160 | BeFree | The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. | 0.000814326 | 2006 | POLR2F;SOX10;LOC105373026 | 22 | 37977999 | C | A |
| rs74315515 | 16921166 | 6663 | SOX10 | umls:C0025160 | BeFree | The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. | 0.000814326 | 2006 | POLR2F;SOX10;LOC105373026 | 22 | 37983381 | C | G |
| rs74315520 | 16921166 | 6663 | SOX10 | umls:C0025160 | BeFree | The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. | 0.000814326 | 2006 | POLR2F;SOX10;LOC105373026 | 22 | 37973767 | 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.) | |