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
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
RFT1 Q96AA3 RFT1 homolog 3.7E-13 0.700 0.500
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
DMBX1 Q8NFW5 diencephalon/mesencephalon homeobox 1 0.93 0.780 0.115