NPPC, natriuretic peptide C, 4880

N. diseases: 106; N. variants: 2
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: C0152417
Disease: Congenital stenosis of aortic valve
Congenital stenosis of aortic valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 5 0.200 None 1.000 1 2007 2007
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		disease Musculoskeletal Diseases Disease or Syndrome 5 17 0.010 None 1.000 1 2006 2006
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 5 0.010 None 1.000 1 2010 2010
CUI: C1535953
Disease: Stenosis of foramen magnum
Stenosis of foramen magnum 		disease Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0155567
Disease: Rheumatic aortic stenosis
Rheumatic aortic stenosis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 7 5 0.200 None 1.000 1 2007 2007
CUI: C0333205
Disease: Mural thrombus
Mural thrombus 		disease Cardiovascular Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2002 2002
CUI: C1260883
Disease: Mural thrombus of heart
Mural thrombus of heart 		disease Cardiovascular Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2002 2002
CUI: C0085700
Disease: Chondromalacia
Chondromalacia 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.300 None 1.000 1 2007 2007
CUI: C4551627
Disease: Granulocytopenic disorder
Granulocytopenic disorder 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2017 2017
CUI: C0679395
Disease: vascular ischemia
vascular ischemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 14 29 0.010 None 1.000 1 2018 2018
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 15 52 0.010 None 1.000 1 2018 2018
CUI: C0035086
Disease: Renal Osteodystrophy
Renal Osteodystrophy 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 16 42 0.010 None 1.000 1 2012 2012
CUI: C0267176
Disease: Gastroparesis with diabetes mellitus
Gastroparesis with diabetes mellitus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 21 0.020 None 1.000 2 2018 2020
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases 		group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.300 None 1.000 1 2007 2007
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 28 82 0.010 None 1.000 1 2019 2019
CUI: C0003128
Disease: Anovulation
Anovulation 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 32 8 0.020 None 1.000 2 2018 2018
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 32 0.300 None 1.000 1 2001 2001
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6 0.010 None 1.000 1 2015 2015
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2007 2007
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight 		phenotype Sign or Symptom 42 2 0.010 None 1.000 1 2018 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.090 None 1.000 9 2010 2020
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 50 7 0.010 None 1.000 1 2007 2007
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 55 8 0.020 None 1.000 2 2018 2018