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: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 1.000 strong 0.983 121 54 1993 2020
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.630 limited 1.000 3 0 1992 2014
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.200 None 1.000 1 0 2002 2002
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 2016 2017
Entrez Id: 4316
Gene Symbol: MMP7
MMP7
matrix metallopeptidase 7 0.446 0.885 1.0E-09
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 2007 2010
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
thrombospondin 1 0.407 0.885 1.00
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 2012 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 1992 2004
Entrez Id: 9242
Gene Symbol: MSC
MSC
musculin 0.475 0.846 2.5E-02
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 1634
Gene Symbol: DCN
DCN
decorin 0.457 0.808 0.31
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 960
Gene Symbol: CD44
CD44
CD44 molecule (Indian blood group) 0.363 0.962 2.4E-07
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.020 None 1.000 2 0 1989 2010
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5976
Gene Symbol: UPF1
UPF1
UPF1 RNA helicase and ATPase 0.663 0.615 1.00
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5347
Gene Symbol: PLK1
PLK1
polo like kinase 1 0.467 0.808 0.98
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 847
Gene Symbol: CAT
CAT
catalase 0.359 0.962 1.6E-10
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 968
Gene Symbol: CD68
CD68
CD68 molecule 0.408 0.808 1.4E-06
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 649
Gene Symbol: BMP1
BMP1
bone morphogenetic protein 1 0.554 0.769 8.9E-04
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6876
Gene Symbol: TAGLN
TAGLN
transgelin 0.540 0.692 8.5E-02
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7052
Gene Symbol: TGM2
TGM2
transglutaminase 2 0.445 0.808 6.8E-18
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 9314
Gene Symbol: KLF4
KLF4
Kruppel like factor 4 0.449 0.769 1.00
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7180
Gene Symbol: CRISP2
CRISP2
cysteine rich secretory protein 2 0.512 0.769 1.4E-12
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 0.010 None 1.000 1 0 2016 2016