Source: GENOMICS_ENGLAND

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: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.472 0.724 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.900 strong 0.975 0 0 1975 2018
Entrez Id: 64175
Gene Symbol: P3H1
P3H1
prolyl 3-hydroxylase 1 0.727 0.241
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.800 strong 1.000 0 0 2007 2014
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP
cartilage associated protein 0.652 0.552 2.6E-03
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.800 strong 1.000 0 0 2006 2014
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.526 0.724 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.700 strong 0.973 0 0 1981 2018
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
serpin family F member 1 0.507 0.724 6.7E-08
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.570 strong 1.000 2 0 2011 2017
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
serpin family H member 1 0.570 0.690 3.3E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.560 strong 1.000 0 0 1998 2016
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
peptidylprolyl isomerase B 0.690 0.379 4.4E-05
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.560 strong 1.000 0 0 2009 2015
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
secreted protein acidic and cysteine rich 0.466 0.793 0.88
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.510 strong 1.000 1 0 1992 2015
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FK506 binding protein 10 0.639 0.414 2.1E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.370 strong 1.000 0 0 2010 2016
Entrez Id: 387733
Gene Symbol: IFITM5
IFITM5
interferon induced transmembrane protein 5 0.799 0.138 2.3E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.350 strong 1.000 0 0 2014 2018
Entrez Id: 55151
Gene Symbol: TMEM38B
TMEM38B
transmembrane protein 38B 0.752 0.207 1.5E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.340 strong 1.000 2 0 2013 2017
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D
SEC24 homolog D, COPII coat complex component 0.720 0.379 6.4E-08
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.320 strong 1.000 1 0 2015 2018
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.438 0.793 3.2E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.320 1.000 0 0 2005 2012
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
cAMP responsive element binding protein 3 like 1 0.707 0.241 0.98
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 strong 1.000 2 0 2014 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, liver/bone/kidney 0.564 0.621 3.5E-04
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 strong < 0.001 1 0 2000 2016
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.621 0.517 5.8E-08
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 strong 1.000 1 0 2013 2013
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1, centriole and centriolar satellite protein 0.547 0.724 0.97
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 limited 1.000 0 0 2016 2016
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.579 0.690 0.88
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 limited 1.000 0 0 2016 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 1.000 0 0 2015 2015
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.577 0.690 7.0E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 1.000 0 0 1994 1994
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.478 0.690 0.42
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 limited 3 0 1995 2005
Entrez Id: 5358
Gene Symbol: PLS3
PLS3
plastin 3 0.685 0.414 0.99
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 strong 2 0 2013 2015
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.630 0.517 2.1E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 strong 2 0 2014 2014
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
prolyl 4-hydroxylase subunit beta 0.570 0.759 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 strong 1 0 2015 2015
Entrez Id: 202018
Gene Symbol: TAPT1
TAPT1
transmembrane anterior posterior transformation 1 0.681 0.517 0.14
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 strong 1 0 2016 2016