SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
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: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		disease Respiratory Tract Diseases Disease or Syndrome 1 5 0.700 strong 1.000 8 5 1994 2015
CUI: C4531104
Disease: Pulmonary opacity
Pulmonary opacity 		phenotype Finding 1 0.100 None 0
CUI: C1857021
Disease: Spontaneous neonatal pneumothorax
Spontaneous neonatal pneumothorax 		phenotype Respiratory Tract Diseases Finding 2 0.100 None 0
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 2017 2017
CUI: C2931035
Disease: Pulmonary alveolar proteinosis, congenital
Pulmonary alveolar proteinosis, congenital 		disease Respiratory Tract Diseases Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
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 1.000 2 2000 2003
CUI: C0398350
Disease: Acute cardiac pulmonary edema
Acute cardiac pulmonary edema 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0231796
Disease: respiratory abnormalities
respiratory abnormalities 		phenotype Respiratory Tract Diseases Sign or Symptom 7 1 0.010 None 1.000 1 1 2007 2007
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 7 0.010 None 1.000 1 1999 1999
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		disease Respiratory Tract Diseases Disease or Syndrome 8 0.010 None 1.000 1 2000 2000
CUI: C0340194
Disease: Respiratory failure without hypercapnia
Respiratory failure without hypercapnia 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 9 0.030 None 1.000 3 1999 2004
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 0.100 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 0.510 None 1.000 3 2000 2001
CUI: C2242710
Disease: Intra-Abdominal Hypertension
Intra-Abdominal Hypertension 		disease Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C0264936
Disease: Secondary pulmonary hypertension
Secondary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 19 0.010 None 1.000 1 2001 2001
CUI: C1262020
Disease: Diffuse alveolar damage
Diffuse alveolar damage 		disease Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.010 None 1.000 1 1999 1999
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C1334455
Disease: Pulmonary Sclerosing Hemangioma
Pulmonary Sclerosing Hemangioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 33 3 0.010 None 1.000 1 2003 2003
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate 		phenotype Respiratory Tract Diseases Finding 43 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 0.150 None 1.000 5 1994 2018
CUI: C0010520
Disease: Cyanosis
Cyanosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		disease Infections Disease or Syndrome 55 9 0.010 None 1.000 1 2011 2011