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: 2131
Gene Symbol: EXT1
EXT1
exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.100 None 0.968 31 1 2004 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.100 None 0.920 25 0 2005 2019
Entrez Id: 4321
Gene Symbol: MMP12
MMP12
matrix metallopeptidase 12 0.484 0.885
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.020 None 1.000 2 0 2008 2010
Entrez Id: 80146
Gene Symbol: UXS1
UXS1
UDP-glucuronate decarboxylase 1 0.839 0.154 2.9E-03
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 6383
Gene Symbol: SDC2
SDC2
syndecan 2 0.536 0.808 0.40
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 401474
Gene Symbol: SAMD12
SAMD12
sterile alpha motif domain containing 12 0.700 0.269 1.2E-03
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 347734
Gene Symbol: SLC35B2
SLC35B2
solute carrier family 35 member B2 0.666 0.423 7.1E-02
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
glypican 4 0.547 0.769 0.93
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 92
Gene Symbol: ACVR2A
ACVR2A
activin A receptor type 2A 0.636 0.615 1.00
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
disease 0.010 None 1.000 1 0 2014 2014