Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577