Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FLG-AS1 FLG antisense RNA 1 0.700 0.538
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
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
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
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
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500