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: 859
Gene Symbol: CAV3
CAV3 		caveolin 3 0.564 0.692 5.5E-03
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.700 None 1.000 5 4 2000 2005
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11 		trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2 		replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 57798
Gene Symbol: GATAD1
GATAD1 		GATA zinc finger domain containing 1 0.736 0.385 0.43
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2 		patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 56983
Gene Symbol: POGLUT1
POGLUT1 		protein O-glucosyltransferase 1 0.691 0.385 1.6E-08
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP 		complement C1q binding protein 0.569 0.692 2.0E-07
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		tafazzin 0.477 0.808 0.73
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 1
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1 		solute carrier family 16 member 1 0.499 0.846 7.4E-04
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 65260
Gene Symbol: COA7
COA7 		cytochrome c oxidase assembly factor 7 (putative) 0.792 0.231 6.0E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6445
Gene Symbol: SGCG
SGCG 		sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 6444
Gene Symbol: SGCD
SGCD 		sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0