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: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP 		valosin containing protein 0.469 0.923 1.00
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.100 None 0 0
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.100 None 0 0
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR 		3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.040 None 1.000 4 0 2016 2019
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		major histocompatibility complex, class II, DQ alpha 1 0.416 0.846 2.4E-02
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3609
Gene Symbol: ILF3
ILF3 		interleukin enhancer binding factor 3 0.621 0.654 1.00
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease 0.010 None 1.000 1 0 2015 2015