Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 735832
Species: Homo sapiens
RGD Object: Gene
Symbol: LEPR
Name: leptin receptor
Acc ID: DOID:9004946
Term: Leptin Receptor Deficiency
Definition: Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. LEPRD is caused by homozygous mutation in the LEPR gene on chromosome 1p31.
Definition Source(s): OMIM:614963
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
LEPR IAGP 7240710OMIM  
LEPR EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
LEPR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiencyPMID:25741868 PMID:28492532
LEPR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiency 
LEPR IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:26467025 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:11380591 PMID:26467025 PMID:28492532
LEPR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiencyPMID:25741868
LEPR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:16284652
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:12646666 PMID:15585384 PMID:17229951 PMID:18703626 PMID:24611737 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 PMID:29970488 PMID:31237021 PMID:33221380
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:25741868 PMID:26467025 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:18212354 PMID:25741868 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:23616257 PMID:24319006 PMID:25741868 PMID:25751111 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:24611737 PMID:26467025 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:12646666 PMID:25741868 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:22810975 PMID:25741868 PMID:28492532 PMID:34097736 PMID:9144432 PMID:9860295
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LEPR-related conditionPMID:25741868 PMID:28492532 PMID:30926952
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:11354636 PMID:11443193 PMID:17785359 PMID:21393862 PMID:22331430 PMID:26467025 PMID:28492532 PMID:8666155
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:9537324
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:11443193 PMID:18490929 PMID:25741868 PMID:26467025 PMID:28492532
LEPR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leptin receptor deficiencyPMID:11443193 PMID:12006639 PMID:21744741 PMID:25741868 PMID:26467025 PMID:28492532
Go Back to source page   Continue to Ontology report