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: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.800 None 1.000 24 9 2000 2019
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.320 strong 1.000 3 0 2000 2018
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.200 None 1.000 1 0 2002 2002
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
TNF superfamily member 11 0.453 0.846 4.9E-03
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.110 None 1.000 1 0 2011 2011
Entrez Id: 760
Gene Symbol: CA2
CA2
carbonic anhydrase 2 0.506 0.808 1.7E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.100 None 0 0
Entrez Id: 6916
Gene Symbol: TBXAS1
TBXAS1
thromboxane A synthase 1 0.619 0.615 1.4E-20
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
transmembrane protein 165 0.711 0.385 0.28
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.100 None 0 0
Entrez Id: 8675
Gene Symbol: STX16
STX16
syntaxin 16 0.656 0.538 0.48
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.100 None 0 0
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.020 None 0.500 2 0 2006 2010
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.020 None 1.000 2 0 2006 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
laminin subunit gamma 2 0.389 0.923 2.9E-12
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
synuclein alpha 0.427 0.885 0.88
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1800
Gene Symbol: DPEP1
DPEP1
dipeptidase 1 0.570 0.654 3.5E-10
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
T cell receptor beta variable 20/OR9-2 (non-functional) 0.403 0.923
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
colony stimulating factor 2 0.330 0.962 0.83
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
toll like receptor 4 0.321 0.962 4.6E-09
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 10666
Gene Symbol: CD226
CD226
CD226 molecule 0.548 0.769 3.9E-02
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP
bone gamma-carboxyglutamate protein 0.462 0.846 4.6E-08
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3956
Gene Symbol: LGALS1
LGALS1
galectin 1 0.435 0.846 4.5E-03
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
disease 0.010 None 1.000 1 0 2018 2018