Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
CLCN1 P35523 chloride voltage-gated channel 1 Ion channel 3.3E-20 0.641 0.423
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
TRNT tRNA 0.729 0.538
MAPT P10636 microtubule associated protein tau 6.0E-03 0.446 0.923