Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		Q16394 exostosin glycosyltransferase 1 Enzyme 205 0.522 0.769 1.00 1.000 definitive 0.977 130 50 1989 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		Q93063 exostosin glycosyltransferase 2 Enzyme 137 0.576 0.654 1.3E-09 0.700 None 0.977 86 0 1994 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		O15266 short stature homeobox 138 0.561 0.654 0.67 0.100 None 0 0
Entrez Id: 2133
Gene Symbol: EXT3
EXT3 		exostoses (multiple) 3 2 0.931 0.115 0.050 None 1.000 5 0 1994 2018
Entrez Id: 10855
Gene Symbol: HPSE
HPSE 		Q9Y251 heparanase Enzyme 393 0.425 0.808 2.3E-14 0.030 None 1.000 3 0 2008 2019
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		P98160 heparan sulfate proteoglycan 2 Enzyme modulator 405 0.438 0.885 1.0E-19 0.020 None 1.000 2 0 2000 2012
Entrez Id: 6383
Gene Symbol: SDC2
SDC2 		P34741 syndecan 2 Extracellular structure 120 0.536 0.808 0.40 0.020 None 1.000 2 0 2000 2012
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3 		O43909 exostosin like glycosyltransferase 3 84 0.599 0.731 2.5E-05 0.020 None 0.500 2 0 1998 2000
Entrez Id: 2135
Gene Symbol: EXTL2
EXTL2 		Q9UBQ6 exostosin like glycosyltransferase 2 7 0.839 0.192 1.8E-04 0.020 None 0.500 2 0 1998 2000
Entrez Id: 4321
Gene Symbol: MMP12
MMP12 		P39900 matrix metallopeptidase 12 Enzyme 216 0.484 0.885 0.020 None 1.000 2 0 2008 2010
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		Q9UHF7 transcriptional repressor GATA binding 1 248 0.537 0.769 1.00 0.020 None 1.000 2 0 1995 1999
Entrez Id: 6934
Gene Symbol: TCF7L2
TCF7L2 		Q9NQB0 transcription factor 7 like 2 257 0.485 0.846 1.00 0.010 None 1.000 1 1 2015 2015
Entrez Id: 6779
Gene Symbol: STATH
STATH 		P02808 statherin 57 0.608 0.769 8.0E-05 0.010 None 1.000 1 0 1993 1993
Entrez Id: 6783
Gene Symbol: SULT1E1
SULT1E1 		P49888 sulfotransferase family 1E member 1 171 0.508 0.808 2.0E-07 0.010 None < 0.001 1 0 2000 2000
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		Q9H161 ALX homeobox 4 129 0.560 0.692 0.36 0.010 None 1.000 1 0 2015 2015
Entrez Id: 80146
Gene Symbol: UXS1
UXS1 		Q8NBZ7 UDP-glucuronate decarboxylase 1 Enzyme 6 0.839 0.154 2.9E-03 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		P46531 notch receptor 1 693 0.369 0.885 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 796
Gene Symbol: CALCA
CALCA 		P01258 P06881 calcitonin related polypeptide alpha Signaling 467 0.416 0.923 1.6E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4488
Gene Symbol: MSX2
MSX2 		P35548 msh homeobox 2 Transcription factor 135 0.539 0.769 0.26 0.010 None 1.000 1 0 2004 2004
Entrez Id: 401474
Gene Symbol: SAMD12
SAMD12 		Q8N8I0 sterile alpha motif domain containing 12 36 0.700 0.269 1.2E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1326
Gene Symbol: MAP3K8
MAP3K8 		P41279 mitogen-activated protein kinase kinase kinase 8 Kinase 168 0.516 0.846 0.97 0.010 None < 0.001 1 0 2000 2000
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 1368 0.303 0.885 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 169026
Gene Symbol: SLC30A8
SLC30A8 		Q8IWU4 solute carrier family 30 member 8 Transporter 63 0.623 0.731 7.4E-12 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		P16112 aggrecan Extracellular structure 187 0.528 0.846 1.00 0.010 None 1.000 1 0 2017 2017