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
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
DES P17661 desmin 8.8E-03 0.460 0.846
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308