CARTPT, CART prepropeptide, 9607

N. diseases: 115; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909065
rs121909065
Entrez Id: 9607
Gene Symbol: CARTPT
CARTPT
CUI: C0028754
Disease:
Obesity 		0.720 GeneticVariation 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
dbSNP: rs121909065
rs121909065
Entrez Id: 9607
Gene Symbol: CARTPT
CARTPT
CUI: C0028754
Disease:
Obesity 		0.720 GeneticVariation 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
dbSNP: rs121909065
rs121909065
Entrez Id: 9607
Gene Symbol: CARTPT
CARTPT
CUI: C0028754
Disease:
Obesity 		C 0.720 SusceptibilityMutation CLINVAR
dbSNP: rs2239670
rs2239670
Entrez Id: 9607
Gene Symbol: CARTPT
CARTPT
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic 		0.010 GeneticVariation BEFREE In conclusion, we report for the first time that the AvaII polymorphism (rs2239670) in intron 1 of the CART gene is associated with alcoholism in the Korean male population. 15234472 2004
dbSNP: rs78242624
rs78242624
Entrez Id: 9607
Gene Symbol: CARTPT
CARTPT
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE A novel amino acid change, Ser66Thr, was found in 2 probands and in 0 of 100 control subjects but did not cosegregate with obesity in family studies. 10905499 2000