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 CausalMutation disease CLINVAR
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.720 Biomarker disease CTD_human
CUI: C0028754
Disease: Obesity
Obesity 		0.700 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease CLINVAR
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.420 Biomarker disease HPO
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.400 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.400 Biomarker phenotype HPO
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		0.400 Biomarker disease HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.130 Biomarker disease HPO
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.130 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.110 Biomarker disease HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.110 Biomarker phenotype HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		0.100 Biomarker phenotype HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.100 Biomarker phenotype HPO
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0.100 Biomarker disease HPO
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		0.100 Biomarker disease HPO
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		0.100 Biomarker disease HPO
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		0.100 Biomarker phenotype HPO
CUI: C1839304
Disease: Decreased proportion of CD4-positive T cells
Decreased proportion of CD4-positive T cells 		0.100 Biomarker phenotype HPO