Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
CAMK4 Q16566 calcium/calmodulin dependent protein kinase IV Kinase 0.51 0.621 0.654