SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
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: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		disease Respiratory Tract Diseases Disease or Syndrome 1 6 0.700 strong 1.000 7 6 2001 2009
CUI: C3872848
Disease: Chronic pneumonitis of infancy
Chronic pneumonitis of infancy 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C4024967
Disease: Congenital peripheral neuropathy
Congenital peripheral neuropathy 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1998122
Disease: Chronic respiratory insufficiency
Chronic respiratory insufficiency 		disease Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0746105
Disease: Chronic interstitial lung disease
Chronic interstitial lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
CUI: C3179539
Disease: Congenital Deficiency of Pulmonary Surfactant Protein B
Congenital Deficiency of Pulmonary Surfactant Protein B 		disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
CUI: C0023795
Disease: Lipoid Proteinosis of Urbach and Wiethe
Lipoid Proteinosis of Urbach and Wiethe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 5 16 0.010 None 1.000 1 1 2011 2011
CUI: C1566302
Disease: Preterm Premature Rupture of Fetal Membranes
Preterm Premature Rupture of Fetal Membranes 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2009 2009
CUI: C2931829
Disease: RDS - infants
RDS - infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 6 0.020 None 0.500 2 2012 2012
CUI: C3161105
Disease: Neuroendocrine cell hyperplasia of infancy
Neuroendocrine cell hyperplasia of infancy 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 7 0.010 None < 0.001 1 2009 2009
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		disease Respiratory Tract Diseases Disease or Syndrome 8 0.020 None 1.000 2 2006 2010
CUI: C0238378
Disease: Desquamative interstitial pneumonia
Desquamative interstitial pneumonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 9 1 0.200 None 1.000 1 2003 2003
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction 		disease Respiratory Tract Diseases Disease or Syndrome 10 0.020 None 1.000 2 2004 2019
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 14 3 0.010 None 1.000 1 2011 2011
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 15 0.500 None 1.000 1 2001 2001
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0 1
CUI: C1301752
Disease: Respiratory morbidity
Respiratory morbidity 		disease Disease or Syndrome 18 0.010 None 1.000 1 2014 2014
CUI: C3274515
Disease: Severe Bronchopulmonary Dysplasia
Severe Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 18 2 0.010 None 1.000 1 2013 2013
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		disease Nervous System Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2010 2010
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease 		disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 0
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0