Disease: Congenital Epicanthus
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WHCR Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
MYMK A6NI61 myomaker, myoblast fusion factor 1.8E-04 0.659 0.538
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
WNT7A O00755 Wnt family member 7A Signaling 3.6E-02 0.531 0.692
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
REV3L O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 1.00 0.588 0.654
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
GPC4 O75487 glypican 4 0.93 0.547 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
ALX3 O95076 ALX homeobox 3 1.9E-02 0.578 0.692
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731