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.
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity
phenotype Finding 11 4 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: 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: C0239803
Disease: Red hair
Red hair
phenotype Finding 9 1 0.100 None 0
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 26 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 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: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
Decreased resting energy expenditure
phenotype Finding 12 0.100 None 0
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C4024583
Disease: Increased adipose tissue
Increased adipose tissue
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0597984
Disease: Biliary stricture
Biliary stricture
disease Digestive System Diseases Anatomical Abnormality 17 0.010 None < 0.001 1 2019 2019
CUI: C1827396
Disease: Refractory infantile spasms
Refractory infantile spasms
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2020 2020
CUI: C0006905
Disease: Capillary Fragility
Capillary Fragility
disease Disease or Syndrome 2 0.010 None < 0.001 1 2018 2018
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.010 None < 0.001 1 2020 2020
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.010 None < 0.001 1 2018 2018
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group Neoplasms Neoplastic Process 371 7 0.010 None < 0.001 1 1992 1992
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 19 0.010 None < 0.001 1 2008 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None < 0.001 1 2018 2018
CUI: C0008354
Disease: Cholera
Cholera
disease Infections Disease or Syndrome 209 1 0.020 None 0.500 2 1995 2006
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell
disease Neoplasms Neoplastic Process 185 7 0.020 None 0.500 2 1993 2018
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.020 None 0.500 2 2 1987 2017