Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
FLVCR1 Q9Y5Y0 FLVCR heme transporter 1 Transporter 1.3E-03 0.529 0.885
STX1B P61266 syntaxin 1B Transporter 0.99 0.650 0.308
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
ATP8A2 Q9NTI2 ATPase phospholipid transporting 8A2 Transporter 1.2E-12 0.659 0.577
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
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
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CCN6 O95389 cellular communication network factor 6 Signaling 6.2E-04 0.568 0.731