Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
PTCH1 Q13635 patched 1 1.00 0.398 0.885
GRM7 Q14831 glutamate metabotropic receptor 7 G-protein coupled receptor 1.00 0.628 0.538
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
ZRANB3 Q5FWF4 zinc finger RANBP2-type containing 3 4.2E-21 0.780 0.577