Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.600 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
0.600 GeneticVariation disease UNIPROT A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.600 GermlineCausalMutation disease ORPHANET
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.600 Biomarker disease CTD_human