CARTPT, CART prepropeptide, 9607

N. diseases: 115; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE In CART analysis, the combined genotypes of FTO rs9939609 and TCF7L2 rs7903146 revealed the highest risk for BMI linked obesity. 27650258 2017
CUI: C0028754
Disease: Obesity
Obesity
0.500 Biomarker disease BEFREE In recent years, the cocaine and amphetamine-regulated transcript (CART) peptides have generated a lot of interest in the battle against obesity because, via the brain, they exert anorexic effects and they increase energy expenditure. 27421727 2016
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE Seven common polymorphisms in LEP, GHRL, CART and LEPR were analysed for genotype and haplotype association with anthropometric obesity phenotype indicators in South African Black and mixed-ancestry adolescent school learners. 21921635 2011
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE Our results supported the hypothesis that inherited variations of the CART gene could influence the development of obesity also in Italian children. 20151954 2010
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE Subsequent studies on humans and transgenic animals provide additional evidence that CART is important in the regulation of appetite as mutations in the CART gene are linked to eating disorders, including obesity and anorexia. 16840648 2007
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE A Leu34Phe mutation in the cocaine- and amphetamine-regulated transcript (CART) gene has been associated with severe early-onset obesity in an affected family. 16400624 2006
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE These results suggest that the obesity observed in humans bearing the Leu34Phe mutation could be due to a putative deficiency in hypothalamic bioactive CART. 16210370 2006
CUI: C0028754
Disease: Obesity
Obesity
0.500 Biomarker disease BEFREE However confirmation of the importance of the role of the CART gene in energy homeostasis and obesity will require investigation and replication in further populations. 15823203 2005
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE A recent study also links a mutation in the CART gene to obesity in humans. 15519893 2004
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE A missense mutation of G729C resulting in the substitution of Leu with Phe at codon 34, within the NH2-terminal CART region, has been detected in the heterozygous state in a 10-year-old obese boy who has been obese since the age of 2 years. 11522684 2001
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE Thus, we have conducted the first systematic study of the CART gene in human obesity, and although no clear association with obesity was found, the data suggest that genetic variation in the CART locus might influence fat distribution and variables related to syndrome X. 10905499 2000
CUI: C0028754
Disease: Obesity
Obesity
0.500 GeneticVariation disease BEFREE Radiation hybrid mapping co-localized the CART gene with a recently published human obesity locus at chromosome 5q13-14 corresponding also to an obesity locus at the similar syntenic region in mice. 10574510 1999
CUI: C0028754
Disease: Obesity
Obesity
0.500 Biomarker disease CTD_human
CUI: C0028754
Disease: Obesity
Obesity
0.500 SusceptibilityMutation disease CLINVAR
CUI: C0028754
Disease: Obesity
Obesity
0.500 Biomarker disease HPO