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
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
GRM7 Q14831 glutamate metabotropic receptor 7 G-protein coupled receptor 1.00 0.628 0.538