Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 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
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
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
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769