Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.530 Biomarker GENOMICS_ENGLAND

Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.370 Biomarker GENOMICS_ENGLAND Telomerase mutations in families with idiopathic pulmonary fibrosis. 17392301

2007
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.320 Biomarker GENOMICS_ENGLAND Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 10024875

1999
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.310 Biomarker GENOMICS_ENGLAND Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 8896559

1996
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 255520
Gene Symbol: ELMOD2
ELMOD2
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. 16773575

2006
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 11836498

2002
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 51314
Gene Symbol: NME8
NME8
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55172
Gene Symbol: DNAAF2
DNAAF2
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker GENOMICS_ENGLAND