| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | Biomarker | disease | HPO | |||||||
|
0.170 | GeneticVariation | disease | BEFREE | Familial hypocalciuric hypercalcaemia with recurrent pancreatitis is associated with calcium-sensing receptor mutations, and thus this variant has the same genetic aetiology as typical familial hypocalciuric hypercalcaemia. | 9039332 | 1996 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Mutations in the calcium sensing receptor gene might represent a novel as yet unidentified predisposing factor which may lead to an increased susceptibility for chronic pancreatitis. | 14641934 | 2003 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | 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 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Our United States-based study confirmed an association of CASR and CP and for the first time demonstrated that CASR R990G is a significant risk factor for CP. | 18680227 | 2008 | ||||
|
0.170 | Biomarker | disease | LHGDN | Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol. | 18680227 | 2008 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | A combination of CASR and SPINK1 gene mutations has been proposed to predispose to idiopathic CP. | 18938753 | 2008 | ||||
|
0.170 | Biomarker | disease | BEFREE | Loss-of-function variants in the cystic fibrosis transmembrane conductance regulator (CFTR) and calcium-sensing receptor (CASR) genes also increase the risk of CP. | 19453252 | 2009 | ||||
|
0.170 | Biomarker | disease | BEFREE | The aim of this study was to investigate the expression of the vitamin D receptor (VDR), 1,25-dihydroxyvitamin D3 24-hydroxylase (CYP24A1), and the calcium-sensing receptor (CaSR), a vitamin D target gene, in the different regions of the pancreas in patients with chronic pancreatitis (n=6) and pancreatic ductal adenocarcinomas (PDAC) (n=17). | 25090635 | 2014 |