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: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2020 2020
CUI: C1274651
Disease: Hypopigmented scar
Hypopigmented scar 		disease Disease or Syndrome 2 0.010 None 1.000 1 2020 2020
CUI: C3824685
Disease: Harmful use of ketamine
Harmful use of ketamine 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2020 2020
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.010 None 1.000 1 2020 2020
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
Large cell neuroendocrine carcinoma 		disease Neoplasms Neoplastic Process 91 3 0.010 None 1.000 1 2020 2020
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: C4237343
Disease: Overweight or obesity
Overweight or obesity 		phenotype Disease or Syndrome 35 17 0.010 None 1.000 1 2020 2020
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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.010 None 1.000 1 2020 2020
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.020 None 1.000 2 2019 2019
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.020 None 1.000 2 2019 2020
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.020 None 1.000 2 2019 2019
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		phenotype Disease or Syndrome 71 8 0.020 None 1.000 2 2019 2019
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.020 None 1.000 2 2019 2019
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.020 None 1.000 2 2019 2019
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome 		disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 67 6 0.020 None 1.000 2 2019 2019
CUI: C0001206
Disease: Acromegaly
Acromegaly 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.020 None 1.000 2 2019 2020
CUI: C1304508
Disease: Spindle cell hemangioma
Spindle cell hemangioma 		disease Neoplasms Neoplastic Process 68 10 0.010 None 1.000 1 2019 2019
CUI: C1300585
Disease: Small cell carcinoma of prostate
Small cell carcinoma of prostate 		disease Neoplasms Neoplastic Process 8 1 0.010 None 1.000 1 2019 2019
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.010 None 1.000 1 2019 2019
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2019 2019
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		phenotype Sign or Symptom 86 21 0.010 None 1.000 1 2019 2019
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.010 None 1.000 1 2019 2019
CUI: C0033802
Disease: Pseudogout
Pseudogout 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 15 5 0.010 None 1.000 1 2019 2019
CUI: C2609247
Disease: Adrenal incidentaloma
Adrenal incidentaloma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 13 2 0.010 None 1.000 1 2019 2019