Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
TUB P50607 TUB bipartite transcription factor 3.1E-03 0.659 0.385
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654