CCKBR, cholecystokinin B receptor, 887

N. diseases: 105; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE Our genetic dissection of the CCK system thus far suggests that the CCK-B receptor gene variation may contribute to the neurobiology of panic disorder. 10395221 1999
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE There was a significantly higher prevalence of the panic disorder-associated CCK-B receptor allele 7 in subjects with IEI (9/22 [40.9%]) compared with control subjects (2/22 [9.1%], P =.037). 11344357 2001
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE We therefore determined the allele and genotype frequencies of a single nucleotide polymorphism in the CCK gene (-36C>T) and one CT repeat polymorphism in the CCK-B-receptor gene in a German panic disorder sample (n = 115 for CCK gene polymorphism, n = 111 for CCK-B-receptor polymorphism) and compared them with gender and age matched controls. 15354400 2004
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE We examined the promoter, exon, and exon-intron boundaries of the genes encoding CCK and its receptors (CCKAR and CCKBR) for variations in 187 patients with PD and 277 screened control individuals. 20023595 2010
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease LHGDN We therefore determined the allele and genotype frequencies of a single nucleotide polymorphism in the CCK gene (-36C>T) and one CT repeat polymorphism in the CCK-B-receptor gene in a German panic disorder sample (n = 115 for CCK gene polymorphism, n = 111 for CCK-B-receptor polymorphism) and compared them with gender and age matched controls. 15354400 2004
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE Also, there is some support for a role of the CCK system in the genetic pathomechanism of PD with particularly strong evidence for the CCK gene itself and the CCK-2R (CCKBR) gene. 22553078 2012
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE Given the potential role of the central cholecystokinin receptor (CCKBR) (CT) polymorphism alleles 26 and 27 in PD, the present study attempted to discern if these alleles moderated panicogenic sensitivity to the CCKBR agonist, CCK-tetrapeptide (CCK-4), in healthy volunteers. 22414867 2012
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.400 GeneticVariation disease BEFREE Missense mutation of the cholecystokinin B receptor gene: lack of association with panic disorder. 8837709 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Moreover, injection of cells expressing E151A-CCK2R in nude mice resulted in the development of large and rapidly growing tumors. 12955087 2003
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.100 GeneticVariation disease BEFREE We report the discovery of single nucleotide polymorphism (SNP) in the cholecystokinin B receptor (CCKBR) gene predicts survival and risk of pancreatic cancer. 22277584 2012
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.100 GeneticVariation disease BEFREE Variant c.811+32C>A in intron 4 of the cholecystokinin-B receptor gene (CCKBR) was reported to correlate with higher pancreatic cancer risk and poorer survival. 26646278 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.100 GeneticVariation disease BEFREE Variant c.811+32C>A in intron 4 of the cholecystokinin-B receptor gene (CCKBR) was reported to correlate with higher pancreatic cancer risk and poorer survival. 26646278 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.100 GeneticVariation disease BEFREE 10, 689-694) have identified a splice variant of CCK2R, called CCK2i4svR, that is expressed in human colorectal and pancreatic cancers but not by cells of the adjacent nonmalignant tissue. 15292208 2004
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.100 GeneticVariation disease BEFREE We report the discovery of single nucleotide polymorphism (SNP) in the cholecystokinin B receptor (CCKBR) gene predicts survival and risk of pancreatic cancer. 22277584 2012
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.080 GeneticVariation phenotype BEFREE We searched for frameshift mutations in a coding poly(T)(8) tract within the gastrin receptor gene (hGARE), which has a potential role in gastrointestinal carcinogenesis. 11896205 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.080 GeneticVariation phenotype BEFREE As activation and overexpression of the cholecystokinin-2 (CCK-2)/gastrin receptor can lead to carcinogenesis, it has been explored as a therapeutic target in pancreatic cancer. 21839751 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.070 GeneticVariation disease BEFREE We have identified six mutations in CCK2R among a panel of 140 colorectal cancers and 44 gastric cancers. 22516348 2012
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.060 GeneticVariation group BEFREE Murine deletion of Cck2r abrogated progastrin-dependent increases in colonic proliferation, mucosal thickness, and beta-catenin and CD44 expression in the colon tumor. 19652364 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 GeneticVariation disease BEFREE Structural alterations of CCK-B/gastrin receptors may account for increased growth-promoting effects of amidated gastrins in colorectal cancer. 11589724 2001
CUI: C0003467
Disease: Anxiety
Anxiety 		0.040 GeneticVariation disease BEFREE Carriers of the CCKBR alleles tended to have higher levels of pre-challenge anxiety and significantly higher levels of anxiety sensitivity and introversion than those without the alleles. 22414867 2012
CUI: C0003467
Disease: Anxiety
Anxiety 		0.040 GeneticVariation disease BEFREE In the child-only analysis, multiple SNPs showed nominal evidence of relationships with phenotypes of interest. rs6265 BDNF and rs2941026 cholecystokinin B receptor had possible relationships with trait anxiety in child-only and family-based analyses. 28413930 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.040 GeneticVariation group BEFREE Carriers of the CCKBR alleles tended to have higher levels of pre-challenge anxiety and significantly higher levels of anxiety sensitivity and introversion than those without the alleles. 22414867 2012
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.040 GeneticVariation group BEFREE In the child-only analysis, multiple SNPs showed nominal evidence of relationships with phenotypes of interest. rs6265 BDNF and rs2941026 cholecystokinin B receptor had possible relationships with trait anxiety in child-only and family-based analyses. 28413930 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 GeneticVariation disease BEFREE Structural alterations of CCK-B/gastrin receptors may account for increased growth-promoting effects of amidated gastrins in colorectal cancer. 11589724 2001