Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
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
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808