| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.460 | Biomarker | disease | BEFREE | Further, CaSR has also been reported to have a potential role in the treatment for diarrheal diseases and the form of pancreatitis that is associated with carbonate stones. | 25069966 | 2014 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif. | 20798521 | 2010 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | There was no association between the various CASR genotypes and SPINK1 N34S in pancreatitis. | 18680227 | 2008 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Pancreatitis in primary hyperparathyroidism is not associated with mutations in the CASR gene, while it remains to be determined why the polymorphisms A986S, R990G and Q1011E were less often present in that subgroup than in the normal population. | 17853337 | 2007 | ||||
|
0.460 | Biomarker | disease | LHGDN | A cohort of 19 families (n=170) with a history of idiopathic CP (ICP) was screened for mutations within the CASR gene; 104 members of that cohort had a mutation (N34S) within the SPINK1 gene and 66 of those were suffering from CP. | 16497624 | 2006 | ||||
|
0.460 | Biomarker | disease | BEFREE | We suggest that the CASR gene is a novel yet undetected co-factor in a multifactorial genetic setting of SPINK1-related pancreatitis that alters the susceptibility for pancreatitis in these patients. | 16497624 | 2006 | ||||
|
0.460 | Biomarker | disease | GENOMICS_ENGLAND | A cohort of 19 families (n=170) with a history of idiopathic CP (ICP) was screened for mutations within the CASR gene; 104 members of that cohort had a mutation (N34S) within the SPINK1 gene and 66 of those were suffering from CP. | 16497624 | 2006 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | In order to study this, we investigated three FHH kindreds with recurrent pancreatitis for mutations of the extracellular calcium-sensing receptor (CaR) to identify a possible common genetic aetiology for typical FHH and that associated with pancreatitis. | 9039332 | 1996 | ||||
|
0.460 | Biomarker | disease | HPO |