Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
TTN-AS1 TTN antisense RNA 1 0.599 0.577
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
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
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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846