recurrent acute pancreatitis |
Disease ID | 1399 |
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Disease | recurrent acute pancreatitis |
Synonym | acute recurrent pancreatitis acute recurrent pancreatitis (disorder) recurrent acute pancreatitis (disorder) |
Orphanet | |
UMLS | C0267937 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0001339 | acute pancreatitis | 2 C0030305 | pancreatitis | 2 C0022679 | cystic kidney | 1 C0085413 | autosomal dominant polycystic kidney | 1 C0149521 | chronic pancreatitis | 1 C0023449 | acute lymphoblastic leukemia | 1 C0085413 | autosomal dominant polycystic kidney disease | 1 C0030421 | paraganglioma | 1 C0206754 | neuroendocrine tumor | 1 C0023448 | lymphoblastic leukemia | 1 |
Curated Gene | (Waiting for update.) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 1399 |
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Disease | recurrent acute pancreatitis |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0001735 | Acute pancreatitis | 2 HP:0001733 | Pancreatic inflammation | 2 HP:0002668 | Paragangliomas | 1 HP:0001737 | Pancreatic cysts | 1 HP:0006721 | Acute lymphocytic leukemia | 1 HP:0006280 | Chronic pancreas inflammation | 1 HP:0002155 | Increased triglycerides | 1 HP:0000113 | Polycystic kidney dysplasia | 1 HP:0002664 | Neoplasia | 1 |
Disease ID | 1399 |
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Disease | recurrent acute pancreatitis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
Text Mined Symptom | (Waiting for update.) |
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 |
rs17107315 | 16954950 | 6690 | SPINK1 | umls:C0267937 | BeFree | PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768). | 0.001357209 | 2006 | SPINK1 | 5 | 147828115 | T | C |
rs17107315 | 19844201 | 6690 | SPINK1 | umls:C0267937 | BeFree | We did not find a statistically significant association of ARP or CP with the N34S SPINK-1 gene mutation. | 0.001357209 | 2010 | SPINK1 | 5 | 147828115 | T | C |
rs17107315 | 16954950 | 5644 | PRSS1 | umls:C0267937 | BeFree | PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768). | 0.000814326 | 2006 | SPINK1 | 5 | 147828115 | T | C |
rs17107315 | 16954950 | 136541 | PRSS58 | umls:C0267937 | BeFree | PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768). | 0.000542884 | 2006 | SPINK1 | 5 | 147828115 | T | C |
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.) |