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: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 0
Respiratory insufficiency due to muscle weakness
phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 0 1
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect
phenotype Finding 61 8 0.100 None 0 1
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung
disease Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0 1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0
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: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0 1
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.100 None 0
Proximal muscle weakness in upper limbs
phenotype Finding 22 3 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 1
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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 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: C0231835
Disease: Tachypnea
Tachypnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
Ground-glass opacification on pulmonary HRCT
phenotype Finding 14 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0 1
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C4024967
Disease: Congenital peripheral neuropathy
Congenital peripheral neuropathy
disease Disease or Syndrome 1 1 0.100 None 0 1