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: 5836
Gene Symbol: PYGL
PYGL
glycogen phosphorylase L 0.705 0.423 1.7E-17
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.720 None 1.000 2 0 1998 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
tachykinin precursor 1 0.424 0.923 0.75
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 2 2019 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5741
Gene Symbol: PTH
PTH
parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 1 2009 2009
Entrez Id: 2641
Gene Symbol: GCG
GCG
glucagon 0.431 0.885 3.5E-02
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2125
Gene Symbol: EVPL
EVPL
envoplakin 0.599 0.423 5.7E-25
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2026
Gene Symbol: ENO2
ENO2
enolase 2 0.475 0.846 0.38
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
disease 0.010 None 1.000 1 0 2018 2018