Source: HPO

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: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease 0.420 None 1.000 0 0 2014 2016
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		disease 0.300 None 1.000 0 0 2007 2007
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.190 None 1.000 0 0 2007 2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.180 None 0.875 0 0 2008 2019
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0238378
Disease: Desquamative interstitial pneumonia
Desquamative interstitial pneumonia 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		disease 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0034642
Disease: Rales
Rales 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0010200
Disease: Coughing
Coughing 		phenotype 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease 0.100 None 0 0
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype 0.100 None 0 0