LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Disease: Obesity, Morbid ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 GeneticVariation disease BEFREE We have previously demonstrated that genetically based leptin deficiency due to a missense leptin gene mutation in a highly consanguineous extended Turkish pedigree is associated with morbid obesity and hypogonadism. 10523015 1999
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 GeneticVariation disease BEFREE We speculated that the mutation H118L in LEP might be associated with severe obesity in Chinese subjects. 24707501 2014
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 Biomarker disease BEFREE Circulating miRNAs showed significant association with plasma levels of adipokines; adiponectin, leptin, and L/A ratios in adolescents with severe obesity. 30309709 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 AlteredExpression disease BEFREE Leptin levels were higher in patients with severe obesity (p < 0.001). 31210052 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 GeneticVariation disease BEFREE Homozygous Leptin(145E/145E) mutant mice exhibited morbid obesity, accompanied by adipose hypertrophy, energy imbalance, and liver steatosis. 21151569 2010
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 Biomarker disease CTD_human A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 Biomarker disease BEFREE Leptin replacement rescues the phenotype of morbid obesity and hypogonadism in leptin-deficient adults. 18854428 2008
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 Biomarker disease BEFREE SH2B1 is well-known as an adaptor protein, and deletion of SH2B1 results in severe obesity and both leptin and insulin resistance. 31739166 2020
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 GeneticVariation disease BEFREE Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants. 26179253 2015
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.400 Biomarker disease BEFREE We and others have identified several single gene defects that disrupt the molecules in the leptin-melanocortin pathway causing severe obesity in humans. 17122358 2006