Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FLG-AS1 FLG antisense RNA 1 0.700 0.538
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
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
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808