Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
MPZ P25189 myelin protein zero 0.27 0.503 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692