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
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769