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: C0020505
Disease: Hyperphagia
Hyperphagia
phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype Finding 23 1 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: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0239803
Disease: Red hair
Red hair
phenotype Finding 9 1 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: C4024583
Disease: Increased adipose tissue
Increased adipose tissue
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
Decreased resting energy expenditure
phenotype Finding 12 0.100 None 0
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 26 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: C4703554
Disease: Increased waist to hip ratio
Increased waist to hip ratio
phenotype Finding 11 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.300 None 1.000 1 1971 1971
CUI: C0751339
Disease: Myasthenia Gravis, Generalized
Myasthenia Gravis, Generalized
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 1971 1971
CUI: C0751143
Disease: Hemifacial Paralysis
Hemifacial Paralysis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 1 0.300 None 1.000 1 1971 1971
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.300 None 1.000 1 1971 1971
CUI: C0751141
Disease: Facial Palsy, Upper Motor Neuron
Facial Palsy, Upper Motor Neuron
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 1 0.300 None 1.000 1 1971 1971
CUI: C0524595
Disease: Aseptic Necrosis of Femur Head
Aseptic Necrosis of Femur Head
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 3 0.300 None 1.000 1 1971 1971
CUI: C0751142
Disease: Facial Palsy, Lower Motor Neuron
Facial Palsy, Lower Motor Neuron
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 1 0.300 None 1.000 1 1971 1971
CUI: C0751340
Disease: Myasthenia Gravis, Ocular
Myasthenia Gravis, Ocular
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 1971 1971
CUI: C0015814
Disease: Femur Head Necrosis
Femur Head Necrosis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 8 0.300 None 1.000 1 1971 1971
CUI: C0151827
Disease: Eye pain
Eye pain
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 10 0.300 None 1.000 1 1971 1971
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.300 None 1.000 1 1971 1971