LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1837802
Disease: Decreased serum leptin
Decreased serum leptin 		phenotype Finding 8 0.100 None 0
CUI: C1846550
Disease: Decreased T cell activation
Decreased T cell activation 		phenotype Finding 6 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.100 None 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		phenotype Finding 44 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 3 0.100 None 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior 		phenotype Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.200 None 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1868528
Disease: Orthostatic hypotension due to autonomic dysfunction
Orthostatic hypotension due to autonomic dysfunction 		phenotype Nervous System Diseases; Cardiovascular Diseases Finding 16 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		phenotype Finding 47 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		group Finding 11 1 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C4016279
Disease: LEPTIN DYSFUNCTION
LEPTIN DYSFUNCTION 		disease Finding 1 1 0.100 None 0 1
CUI: C1839304
Disease: Decreased proportion of CD4-positive T cells
Decreased proportion of CD4-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.700 None 0.952 794 7 1973 2020
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.600 None 0.992 119 1976 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.600 None 0.952 124 2 1996 2020
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		disease Disease or Syndrome 15 3 0.800 strong 0.957 46 3 1996 2020
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.600 None 0.944 18 1996 2020