Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
EP300 Q09472 E1A binding protein p300 1.00 0.459 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
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
EDA Q92838 ectodysplasin A 0.97 0.553 0.808
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
POLR3H Q9Y535 RNA polymerase III subunit H Enzyme 6.0E-03 0.769 0.346