Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 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
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
TSPEAR Q8WU66 thrombospondin type laminin G domain and EAR repeats 2.4E-17 0.736 0.385
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615