Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
LMNA P02545 lamin A/C 1.00 0.384 0.885
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
MPZ P25189 myelin protein zero 0.27 0.503 0.846
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
MARS1 P56192 methionyl-tRNA synthetase 1 2.1E-15 0.638 0.654
SBF1 O95248 SET binding factor 1 Enzyme 1.00 0.700 0.500
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
LRSAM1 Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 3.1E-13 0.638 0.500
ARHGEF10 O15013 Rho guanine nucleotide exchange factor 10 Enzyme 6.8E-30 0.729 0.577
CTDP1 Q9Y5B0 CTD phosphatase subunit 1 Enzyme 6.0E-04 0.641 0.577