Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
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
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731