LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease CTD_human
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 CausalMutation disease CLINVAR
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GeneticVariation disease CLINVAR
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Plasma leptin in humans is positively correlated with body fat mass, suggesting that leptin resistance rather than leptin deficiency is a common feature of human obesity. 8886745 1996
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE With the exception of ob/ob mice, circulating plasma leptin is elevated in all other obese rodents as well as in obese humans, suggesting that leptin resistance rather than leptin deficiency is a characteristic feature of obesity. 9243102 1997
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Consistent with this idea, CNTF treatment of ob/ob mice, which lack functional leptin, was found to reduce the adiposity, hyperphagia, and hyperinsulinemia associated with leptin deficiency. 9177239 1997
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GeneticVariation disease UNIPROT A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GeneticVariation disease BEFREE In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity. 9537324 1998
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Our results support the idea that leptin modulates insulin sensitivity and glucose disposal independently of its effect on food intake, and that leptin deficiency accounts for the insulin resistance found in CGL. 10485707 1999
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 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: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Our data show that similar to findings in obese humans, homozygous or heterozygous leptin deficiency is associated with increased platelet aggregation compared with controls, and that higher concentrations of leptin do not increase platelet aggregation. 11595779 2001
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GeneticVariation disease BEFREE Children with rare homozygous mutations in the leptin gene and complete leptin deficiency develop extreme hyperphagia and obesity soon after birth but respond with normal eating and a selective loss of excess body fat upon being given small amounts of leptin. 12403081 2002
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE The subcutaneous administration of recombinant human leptin has major and sustained beneficial effects on the multiple phenotypic abnormalities associated with congenital human leptin deficiency. 12393845 2002
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 AlteredExpression disease BEFREE Leptin infusion lowers the corticosterone levels, suggesting that leptin deficiency contributes to the hypercorticosteronemic state. 12086940 2002
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GeneticVariation disease BEFREE The only situation in which obesity does not parallel leptin values is the rare case of morbid obesity due to leptin deficiency caused by missense mutation of the leptin gene. 12519870 2003
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE To test the hypothesis that leptin has a key role in metabolic and endocrine regulation in adults, we examined the effects of human leptin replacement in the only three adults identified to date who have genetically based leptin deficiency. 15070752 2004
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE We studied the effects of leptin replacement on three adults with genetic leptin deficiency during the initial 12 months of treatment. 17684509 2007
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 AlteredExpression disease BEFREE Our objective in the present study was to examine the rate of melanoma tumor growth in lean and obese mice with leptin deficiency or high levels of plasma leptin. 19713740 2009
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Increased circulating leptin is present in human heart failure, and leptin deficiency is linked to worse outcomes in chronic ischemic injury. 19919993 2009
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GeneticVariation disease BEFREE Leptin replacement therapy reverses endocrine and metabolic alterations associated with leptin deficiency. 21340154 2010
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE This study gives additional insight in the influence of leptin therapy on brain functions in leptin deficiency. 21593110 2011
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Dynamics of plasma proteome during leptin-replacement therapy in genetically based leptin deficiency. 20458342 2011
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 AlteredExpression disease BEFREE Similarly, leptin deficiency is associated with thyroid axis abnormalities including abnormal levels of thyrotropin-releasing hormone, and leptin administration may at least partially attenuate this effect. 22665330 2012
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease BEFREE Leptin's physiological functions as well as deleterious effects in states of leptin deficiency or hyperleptinemia are emphasized. 23374894 2013