Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
SLC52A3 Q9NQ40 solute carrier family 52 member 3 Transporter 1.9E-02 0.610 0.654
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
SLC6A1 P30531 solute carrier family 6 member 1 Transporter 1.00 0.592 0.538
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
SLC1A4 P43007 solute carrier family 1 member 4 Transporter 6.6E-02 0.700 0.385
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769