LEP, leptin, 3952

N. diseases: 931; N. variants: 15
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 AlteredExpression disease BEFREE Our aim was to investigate the regulation of the gene expression of leptin in subcutaneous adipose tissue biopsies in morbid obesity before and after biliopancreatic diversion (BPD). 12033286 2002
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Indeed, mutations in the gene's encoding leptin and its cognate receptor cause severe obesity in humans. 12481551 2002
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE However, the leptin 25CAG allele may be linked to morbid obesity in this population. 11140377 2000
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE In order to examine the involvement of leptin in the ossification of spinal ligaments (OSL), the present study examined (i) serum levels of leptin and insulin in OSL patients and controls, (ii) serum leptin levels in children of OSL females with severe obesity, (iii) the expression of leptin receptor mRNA in human spinal ligaments, and (iv) effects of leptin on cultured human ligament cells. 10673363 2000
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 Therapeutic 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 The massive obesity caused in rodents by the disruption of the leptin-receptor signal through genetic defects at the level of either leptin (OB) or leptin receptor (OB-R) has raised the question of the relevance of these genes to morbid obesity in humans. 9545018 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE In rodents, homozygous mutations in genes encoding leptin or the leptin receptor cause early-onset morbid obesity, hyperphagia and reduced energy expenditure. 9537324 1998
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 We have thus been able to confirm a tight relationship between serum leptin and body mass but have found no evidence for genetic linkage of the ob gene markers to morbid obesity in a population considered to represent a genetic isolate and to be an ideal model for studies of complex disorders. 9150718 1997