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
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.560 0.692
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
HADH Q16836 hydroxyacyl-CoA dehydrogenase 6.6E-05 0.650 0.538