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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.090 None 1.000 9 2001 2015
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease Disease or Syndrome 58 9 0.360 None 1.000 6 2000 2017
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.050 None 1.000 5 2006 2014
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I 		disease Neoplastic Process 115 1 0.010 None 1.000 1 2007 2007
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C1112157
Disease: Intrauterine infection
Intrauterine infection 		disease Disease or Syndrome 30 1 0.010 None 1.000 1 2018 2018
CUI: C1301752
Disease: Respiratory morbidity
Respiratory morbidity 		disease Disease or Syndrome 18 0.010 None 1.000 1 2014 2014
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		phenotype Finding 27 0.100 None 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		phenotype Finding 22 3 0.100 None 0 1
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0 1
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0 1
CUI: C4024967
Disease: Congenital peripheral neuropathy
Congenital peripheral neuropathy 		disease Disease or Syndrome 1 1 0.100 None 0 1
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 2003 2014
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 1 2018 2018
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 26 11 0.010 None 1.000 1 2018 2018
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.010 None 1.000 1 2018 2018
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.400 None 0.944 18 3 2000 2019
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.030 None 1.000 3 1 2004 2019
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: 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