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
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 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
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
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
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
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
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846