Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808