Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
SNHG22 small nucleolar RNA host gene 22 0.861 0.346
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
MYO5B Q9ULV0 myosin VB Cellular structure 3.4E-23 0.641 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
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
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
TUB P50607 TUB bipartite transcription factor 3.1E-03 0.659 0.385
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846