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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
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
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
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
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
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
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885