Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
CACNA1S Q13698 calcium voltage-gated channel subunit alpha1 S Ion channel 6.3E-12 0.595 0.692
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654
PFKM P08237 phosphofructokinase, muscle Kinase 3.8E-18 0.666 0.500
AHCY P23526 adenosylhomocysteinase Enzyme 3.6E-02 0.582 0.692
DBNL Q9UJU6 drebrin like Cellular structure 1.8E-02 0.695 0.654
PGAM2 P15259 phosphoglycerate mutase 2 1.4E-07 0.792 0.308