Source: ALL

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: 4153
Gene Symbol: MBL2
MBL2 		mannose binding lectin 2 0.390 0.846 2.7E-03
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.700 moderate 0.935 62 2 1994 2019
Entrez Id: 50639
Gene Symbol: MBL3P
MBL3P 		mannose-binding lectin family member 3, pseudogene 0.518 0.769
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.050 None 1.000 5 0 2008 2019
Entrez Id: 260431
Gene Symbol: COPD
COPD 		Pulmonary disease, chronic obstructive, severe early-onset 0.456 0.885
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.030 None 1.000 3 0 2010 2018
Entrez Id: 2220
Gene Symbol: FCN2
FCN2 		ficolin 2 0.517 0.846 3.6E-11
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.020 None 0.500 2 0 2009 2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2 		nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 728
Gene Symbol: C5AR1
C5AR1 		complement C5a receptor 1 0.513 0.808 0.40
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB 		platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5269
Gene Symbol: SERPINB6
SERPINB6 		serpin family B member 6 0.547 0.769 1.1E-04
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 55660
Gene Symbol: PRPF40A
PRPF40A 		pre-mRNA processing factor 40 homolog A 0.716 0.692 3.9E-02
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5648
Gene Symbol: MASP1
MASP1 		mannan binding lectin serine peptidase 1 0.565 0.885 1.2E-11
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7099
Gene Symbol: TLR4
TLR4 		toll like receptor 4 0.321 0.962 4.6E-09
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2 		prostaglandin-endoperoxide synthase 2 0.314 0.962 1.00
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6352
Gene Symbol: CCL5
CCL5 		C-C motif chemokine ligand 5 0.403 0.885 1.8E-03
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 10487
Gene Symbol: CAP1
CAP1 		cyclase associated actin cytoskeleton regulatory protein 1 0.529 0.808 2.0E-02
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP 		leucyl and cystinyl aminopeptidase 0.514 0.731 1.00
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1 		sorbin and SH3 domain containing 1 0.554 0.769 1.5E-12
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 10747
Gene Symbol: MASP2
MASP2 		mannan binding lectin serine peptidase 2 0.582 0.692 3.0E-14
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 1 2011 2011
Entrez Id: 1401
Gene Symbol: CRP
CRP 		C-reactive protein 0.299 0.962 3.7E-03
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1483
Gene Symbol: CTAA1
CTAA1 		cataract, anterior polar 1 0.568 0.731
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 23476
Gene Symbol: BRD4
BRD4 		bromodomain containing 4 0.446 0.885 1.00
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2919
Gene Symbol: CXCL1
CXCL1 		C-X-C motif chemokine ligand 1 0.449 0.923 0.12
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2920
Gene Symbol: CXCL2
CXCL2 		C-X-C motif chemokine ligand 2 0.513 0.885 3.6E-07
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3578
Gene Symbol: IL9
IL9 		interleukin 9 0.461 0.846 8.1E-07
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9200
Gene Symbol: HACD1
HACD1 		3-hydroxyacyl-CoA dehydratase 1 0.539 0.846 1.3E-09
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		disease 0.010 None < 0.001 1 0 2013 2013