PedAM
Pediatric Disease Annotations & Medicines
| meconium ileus | ||||
| Disease ID | 992 |
|---|---|
| Disease | meconium ileus |
| Definition | Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. |
| Synonym | ileus meconium ileus, meconium meconium ileus (disorder) meconium ileus in neonates meconium ileus nos meconium ileus of newborn meconium ileus of the newborn |
| OMIM | |
| UMLS | C2939175 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0010674 | cystic fibrosis | 9 C0042961 | volvulus | 2 C0021843 | bowel obstruction | 2 C0011847 | diabetes | 1 C0006267 | bronchiectasis | 1 C0030293 | pancreatic insufficiency | 1 C0042961 | intestinal volvulus | 1 C0011991 | diarrhea | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 992 |
|---|---|
| Disease | meconium ileus |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0005214 | Bowel obstruction | 2 HP:0002580 | Volvulus | 2 HP:0002247 | Duodenal atresia | 1 HP:0002110 | Bronchiectasis | 1 HP:0002014 | Diarrhea | 1 |
| Disease ID | 992 |
|---|---|
| Disease | meconium ileus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0270250 | meconium peritonitis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs146521846 | 19774621 | 1080 | CFTR | umls:C2939175 | BeFree | S1118F-CFTR shows impaired maturation and an individual with S1118F-CFTR paired with DeltaF508-CFTR exhibits atypical CF symptoms with intermediate sweat chloride level and meconium ileus despite documented pancreatic sufficiency. | 0.002171535 | 2009 | CFTR | 7 | 117611794 | C | G,T |
| rs17563161 | 24057835 | 11254 | SLC6A14 | umls:C2939175 | BeFree | SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). | 0.000271442 | 2013 | SLC9A3 | 5 | 497509 | G | A |
| rs17563161 | 24057835 | 6550 | SLC9A3 | umls:C2939175 | BeFree | SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). | 0.000271442 | 2013 | SLC9A3 | 5 | 497509 | G | A |
| rs2734705 | 20179644 | 9629 | CLCA3P | umls:C2939175 | BeFree | The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. | 0.000271442 | 2010 | CLCA1 | 1 | 86486641 | A | G |
| rs2734705 | 20179644 | 1179 | CLCA1 | umls:C2939175 | BeFree | Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. | 0.000271442 | 2010 | CLCA1 | 1 | 86486641 | A | G |
| rs3788766 | 24057835 | 6550 | SLC9A3 | umls:C2939175 | BeFree | SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). | 0.000271442 | 2013 | SLC6A14 | X | 116435671 | G | A |
| rs3788766 | 24057835 | 11254 | SLC6A14 | umls:C2939175 | BeFree | SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). | 0.000271442 | 2013 | SLC6A14 | X | 116435671 | G | A |
| rs7512462 | 24057835 | 6550 | SLC9A3 | umls:C2939175 | BeFree | SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). | 0.000271442 | 2013 | SLC26A9 | 1 | 205930467 | T | C |
| rs7512462 | 24057835 | 11254 | SLC6A14 | umls:C2939175 | BeFree | SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). | 0.000271442 | 2013 | SLC26A9 | 1 | 205930467 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:7) | |||||||||||||||||||||||||||||
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| 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 |
| 1 | 205899595 | rs7512462 | T | C | rs7512462 | 22466613 | 2.03E-08 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 1 | 205914757 | rs4077468 | A | G | rs4077468 | 22466613 | 9.44E-09 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 205916699 | rs12047830 | G | A | rs12047830 | 22466613 | 3.26E-06 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 1 | 205917309 | rs7419153 | G | A | rs7419153 | 22466613 | 1.22E-07 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 115565550 | rs12839137 | G | A | rs12839137 | 22466613 | 1.02E-06 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 115565881 | rs5905283 | A | C | rs5905283 | 22466613 | 1.42E-08 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| X | 115566839 | rs3788766 | A | G | rs3788766 | 22466613 | 1.02E-12 | NA | NA | NA | 3,763 European ancestry cases | European(3763) | ALL(3763) | EUR(3763) | ALL(3763) | Cystic fibrosis (meconium ileus) | HPOID:0004401 | Meconium ileus | DOID:1485 | cystic fibrosis | D003550 | Cystic Fibrosis | NA | NA | Cystic fibrosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
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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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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