Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
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
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
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
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
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
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846