Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PDE6A P16499 phosphodiesterase 6A 6.6E-25 0.691 0.269
STX1B P61266 syntaxin 1B Transporter 0.99 0.650 0.308
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
POLR3H Q9Y535 RNA polymerase III subunit H Enzyme 6.0E-03 0.769 0.346
CTBP1-AS CTBP1 antisense RNA 0.760 0.346
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
HIKESHI Q53FT3 heat shock protein nuclear import factor hikeshi 0.52 0.751 0.385
KCNN2 Q9H2S1 potassium calcium-activated channel subfamily N member 2 Ion channel 0.99 0.769 0.385
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
NUBPL Q8TB37 nucleotide binding protein like 1.1E-05 0.670 0.423
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
GAN Q9H2C0 gigaxonin 2.5E-02 0.674 0.500
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500