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: C0020505
Disease: Hyperphagia
Hyperphagia
0.400 Biomarker phenotype CTD_human We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. 26186301 2015
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
0.400 Therapeutic phenotype CTD_human We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. 26186301 2015
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
0.400 Biomarker phenotype CTD_human Oral administration of Nitraria retusa ethanolic extract enhances hepatic lipid metabolism in db/db mice model 'BKS.Cg-Dock7(m)+/+ Lepr(db/)J' through the modulation of lipogenesis-lipolysis balance. 25086370 2014
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
0.400 Therapeutic phenotype CTD_human Oral administration of Nitraria retusa ethanolic extract enhances hepatic lipid metabolism in db/db mice model 'BKS.Cg-Dock7(m)+/+ Lepr(db/)J' through the modulation of lipogenesis-lipolysis balance. 25086370 2014
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
0.400 Biomarker phenotype HPO