Source: CLINVAR

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: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.120 None 1.000 1 1 2005 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.110 None 1.000 1 1 2002 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5224
Gene Symbol: PGAM2
PGAM2 		phosphoglycerate mutase 2 0.792 0.308 1.4E-07
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5213
Gene Symbol: PFKM
PFKM 		phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 28988
Gene Symbol: DBNL
DBNL 		drebrin like 0.695 0.654 1.8E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 191
Gene Symbol: AHCY
AHCY 		adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 0 3
Entrez Id: 29888
Gene Symbol: STRN4
STRN4 		striatin 4 0.792 0.346 0.99
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 0 1
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype 0.100 None 0 2