Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
RLIM Q9NVW2 ring finger protein, LIM domain interacting 0.99 0.686 0.500
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654
PKP2 Q99959 plakophilin 2 Cellular structure 3.1E-18 0.606 0.538
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615