Source: ALL

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: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 1.000 None 0.993 138 21 1989 2019
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.100 None 1.000 13 1 1982 2019
Entrez Id: 7001
Gene Symbol: PRDX2
PRDX2 		peroxiredoxin 2 0.474 0.885 8.7E-02
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.070 None 1.000 7 1 1991 2019
Entrez Id: 722
Gene Symbol: C4BPA
C4BPA 		complement component 4 binding protein alpha 0.556 0.846 0.46
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.070 None 1.000 7 0 1991 2019
Entrez Id: 79092
Gene Symbol: CARD14
CARD14 		caspase recruitment domain family member 14 0.546 0.846 1.2E-19
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.070 None 1.000 7 2 1991 2019
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.070 None 1.000 7 1 1991 2019
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		solute carrier family 37 member 4 0.617 0.654 1.7E-05
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.040 None 1.000 4 1 2006 2020
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2 		phosphorylase kinase regulatory subunit alpha 2 0.678 0.462 0.38
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.030 None 1.000 3 0 2016 2019
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 0 2004 2007
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 0.500 2 0 1999 2019
Entrez Id: 8972
Gene Symbol: MGAM
MGAM 		maltase-glucoamylase 0.592 0.615 1.0E-35
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 25801
Gene Symbol: GCA
GCA 		grancalcin 0.590 0.731 1.4E-04
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 0 1995 2011
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 2 2010 2019
Entrez Id: 6476
Gene Symbol: SI
SI 		sucrase-isomaltase 0.569 0.692 3.9E-60
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 10194
Gene Symbol: TSHZ1
TSHZ1 		teashirt zinc finger homeobox 1 0.569 0.731 1.00
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 0 1996 2010
Entrez Id: 686
Gene Symbol: BTD
BTD 		biotinidase 0.628 0.654 1.5E-07
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.020 None 1.000 2 0 2007 2010
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		HNF1 homeobox A 0.478 0.846 0.96
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4331
Gene Symbol: MNAT1
MNAT1 		MNAT1 component of CDK activating kinase 0.539 0.846 1.3E-12
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A 		5'-nucleotidase, cytosolic IIIA 0.593 0.692 1.5E-02
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5836
Gene Symbol: PYGL
PYGL 		glycogen phosphorylase L 0.705 0.423 1.7E-17
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5334
Gene Symbol: PLCL1
PLCL1 		phospholipase C like 1 (inactive) 0.608 0.654 1.2E-02
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 53841
Gene Symbol: CDHR5
CDHR5 		cadherin related family member 5 0.729 0.423 7.7E-19
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 3 2011 2011
Entrez Id: 886
Gene Symbol: CCKAR
CCKAR 		cholecystokinin A receptor 0.615 0.500 4.0E-03
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 54797
Gene Symbol: MED18
MED18 		mediator complex subunit 18 0.736 0.423 1.6E-04
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2016 2016