Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615
MYRF Q9Y2G1 myelin regulatory factor 1.00 0.584 0.731
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538