Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		disease 0.700 strong 1.000 3 5 2001 2009
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group 0.500 strong 1.000 0 1 2001 2019
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		disease 0.420 strong 1.000 0 1 1996 2004
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.120 None 1.000 0 1 1999 2009
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C4024967
Disease: Congenital peripheral neuropathy
Congenital peripheral neuropathy 		disease 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		group 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 1