Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
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
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
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
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846