Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
CACNA1F O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 1.2E-05 0.595 0.500
MYH11 P35749 myosin heavy chain 11 0.77 0.528 0.731
COL4A4 P53420 collagen type IV alpha 4 chain 6.7E-16 0.644 0.500
NDE1 Q9NXR1 nudE neurodevelopment protein 1 6.7E-03 0.608 0.462
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308