LEP, leptin, 3952

N. diseases: 114; N. variants: 3
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION ×
Source: CURATED ×
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 GeneticVariation disease UNIPROT Biologically inactive leptin and early-onset extreme obesity. 25551525 2015
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 GermlineCausalMutation disease ORPHANET Monogenic forms of childhood obesity due to mutations in the leptin gene. 26567097 2014
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 Biomarker disease GENOMICS_ENGLAND
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 Biomarker disease CTD_human