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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
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
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615