Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
RALGAPB Q86X10 Ral GTPase activating protein non-catalytic subunit beta 1.00 0.659 0.577
MLLT1 Q03111 MLLT1 super elongation complex subunit Nucleic acid binding 0.99 0.663 0.346
STX7 O15400 syntaxin 7 Transporter 5.0E-06 0.821 0.231
LINC02245 long intergenic non-protein coding RNA 2245 0.821 0.231
SLC1A4 P43007 solute carrier family 1 member 4 Transporter 6.6E-02 0.700 0.385
KDM2B Q8NHM5 lysine demethylase 2B Epigenetic regulator 1.00 0.592 0.692