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
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
ENG P17813 endoglin 1.00 0.446 0.846
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
DNAH7 Q8WXX0 dynein axonemal heavy chain 7 Enzyme 1.4E-71 0.769 0.346
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462