POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
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.
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity
phenotype Finding 11 4 0.100 None 0
CUI: C0239803
Disease: Red hair
Red hair
phenotype Finding 9 1 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype Finding 23 1 0.100 None 0
CUI: C4024583
Disease: Increased adipose tissue
Increased adipose tissue
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
Decreased resting energy expenditure
phenotype Finding 12 0.100 None 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C4703554
Disease: Increased waist to hip ratio
Increased waist to hip ratio
phenotype Finding 11 0.100 None 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.100 None 0
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 26 0.100 None 0
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 6 0.610 strong 1.000 1 6 2018 2018
CUI: C0751118
Disease: Epilepsy, Tonic-Clonic, Familial
Epilepsy, Tonic-Clonic, Familial
disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 1974 1974
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile
disease Nervous System Diseases Disease or Syndrome 11 6 0.300 None 1.000 1 1984 1984
CUI: C0032787
Disease: Postoperative Complications
Postoperative Complications
group Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.300 None 1.000 1 1974 1974
CUI: C0032300
Disease: Lobar Pneumonia
Lobar Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 140 2 0.300 None 1.000 1 1980 1980
CUI: C1096154
Disease: Kinsbourne Syndrome
Kinsbourne Syndrome
disease Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 1992 1992
CUI: C0019572
Disease: Hirsutism
Hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 88 17 0.300 None 1.000 1 1992 1992
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 10 1 0.300 None 1.000 1 1984 1984
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
disease Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 1984 1984
CUI: C0393695
Disease: Early Childhood Epilepsy, Myoclonic
Early Childhood Epilepsy, Myoclonic
disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 1984 1984
CUI: C0376338
Disease: Diagnosis, Psychiatric
Diagnosis, Psychiatric
disease Mental Disorders Mental or Behavioral Dysfunction 46 1 0.300 None 1.000 1 2007 2007