Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DNAH7 Q8WXX0 dynein axonemal heavy chain 7 Enzyme 1.4E-71 0.769 0.346
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRM7 Q14831 glutamate metabotropic receptor 7 G-protein coupled receptor 1.00 0.628 0.538
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAGED2 Q9UNF1 MAGE family member D2 Cell adhesion 1.00 0.691 0.462
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577