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: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		phenotype Finding 22 3 0.100 None 0 1
CUI: C4721952
Disease: Familial Idiopathic Pulmonary Fibrosis
Familial Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 23 0.310 None 1.000 1 2006 2006
CUI: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
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: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		phenotype Finding 27 0.100 None 0
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 28 1 0.020 None 0.500 2 1 2004 2007
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.100 None 0 1
CUI: C1112157
Disease: Intrauterine infection
Intrauterine infection 		disease Disease or Syndrome 30 1 0.010 None 1.000 1 2018 2018
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0242706
Disease: Hyperoxia
Hyperoxia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.200 None 1.000 1 2001 2001
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		disease Respiratory Tract Diseases Disease or Syndrome 51 7 0.420 strong 1.000 3 2 1996 2004
CUI: C0010520
Disease: Cyanosis
Cyanosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.320 None 0.667 3 2002 2007
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease Disease or Syndrome 58 9 0.360 None 1.000 6 2000 2017
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0 1
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.350 None 1.000 5 1 2002 2010
CUI: C2350236
Disease: Idiopathic Interstitial Pneumonias
Idiopathic Interstitial Pneumonias 		disease Respiratory Tract Diseases Disease or Syndrome 64 4 0.020 None 0.500 2 2007 2010
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0 1
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		disease Respiratory Tract Diseases Disease or Syndrome 66 9 0.170 None 1.000 7 2 2002 2015
CUI: C0004626
Disease: Pneumonia, Bacterial
Pneumonia, Bacterial 		group Infections; Respiratory Tract Diseases Disease or Syndrome 66 2 0.200 None 1.000 1 2002 2002
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: C0010633
Disease: Cystadenoma
Cystadenoma 		disease Neoplasms Neoplastic Process 75 1 0.010 None 1.000 1 1995 1995
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.300 None 1.000 1 2000 2000
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 0 1