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encyclopedia of Rare Disease Annotation for Precision Medicine

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	recurrent acute pancreatitis

Disease ID	1931
Disease	recurrent acute pancreatitis
Synonym	acute recurrent pancreatitis acute recurrent pancreatitis (disorder) recurrent acute pancreatitis (disorder)
Orphanet	ORPHANET:64740
UMLS	C0267937
SNOMED-CT	SNOMEDCT_US_2016_09_01:197458008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0030305 \| pancreatitis \| 2 C0001339 \| acute pancreatitis \| 2 C0023448 \| lymphoblastic leukemia \| 1 C0206754 \| neuroendocrine tumor \| 1 C0085413 \| autosomal dominant polycystic kidney disease \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0030421 \| paraganglioma \| 1 C0085413 \| autosomal dominant polycystic kidney \| 1 C0022679 \| cystic kidney \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6690 \| SPINK1 \| CIPHER
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1931
Disease	recurrent acute pancreatitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002155 \| Increased triglycerides \| 2 HP:0001733 \| Pancreatic inflammation \| 2 HP:0001735 \| Acute pancreatitis \| 2 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0002664 \| Neoplasia \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1

Disease ID	1931
Disease	recurrent acute pancreatitis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0235974 \| pancreatic carcinoma C0040034 \| thrombocytopenia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0878588 \| sphincter of oddi dysfunction \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1931
Disease	recurrent acute pancreatitis
Case	(Waiting for update.)

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