LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease BEFREE A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed. 29568105 2018
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 AlteredExpression disease BEFREE In conclusion, activation of the leptin receptor ob‑R is an important pathogenic mechanism of UC, and leptin receptor deficiency may provide resistance against TNBS‑induced colitis by inhibiting the NF‑κB and RhoA signaling pathways. 31702041 2019
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 CausalMutation disease CLINVAR
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease GENOMICS_ENGLAND Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery. 23275530 2013
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GermlineCausalMutation disease ORPHANET Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 17229951 2007
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease CTD_human
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GermlineCausalMutation disease ORPHANET A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GeneticVariation disease UNIPROT Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect. 25751111 2015
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GeneticVariation disease UNIPROT A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998