eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| intestinal disease | ||||
| Disease ID | 836 |
|---|---|
| Disease | intestinal disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0003864 | arthritis | 19 C0024523 | malabsorption | 12 C0007570 | celiac disease | 5 C0021167 | incontinence | 3 C0011991 | diarrhea | 2 C0426359 | urinary symptoms | 1 C0796095 | c syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10188217 | 21298027 | 150962 | PUS10 | umls:C0021831 | GAD | [A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.] | 0.002367032 | 2011 | PUS10 | 2 | 60990407 | T | C |
| rs121908377 | 14997560 | 50943 | FOXP3 | umls:C0021831 | BeFree | A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a severe speech and language disorder, while a series of missense mutations distributed over the forkhead domain of FOXP3 cause a fatal disorder called IPEX, characterized by immune dysregulation, polyendocrinopathy, and enteropathy. | 0.001628651 | 2004 | FOXP2 | 7 | 114662075 | G | A |
| rs212388 | 21298027 | 117289 | TAGAP | umls:C0021831 | GAD | [A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.] | 0.002367032 | 2011 | NA | 6 | 159069404 | C | T |
| rs5742912 | 21917531 | 1080 | CFTR | umls:C0021831 | BeFree | p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not show any symptoms of respiratory or intestinal disease that could be interpreted as the manifestation of CF or CFTR-related disorder. | 0.000542884 | 2012 | SCNN1A | 12 | 6349184 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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.) |
| Disease ID | 836 |
|---|---|
| Disease | intestinal disease |
| Case | (Waiting for update.) |