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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
PMPCA Q10713 peptidase, mitochondrial processing subunit alpha Enzyme 3.4E-11 0.633 0.577
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
TNNT2 P45379 troponin T2, cardiac type Cellular structure 2.0E-03 0.601 0.423
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769
CEP85L Q5SZL2 centrosomal protein 85 like 4.5E-09 0.656 0.423
PLN P26678 phospholamban 0.45 0.595 0.577
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615
PRKAG2 Q9UGJ0 protein kinase AMP-activated non-catalytic subunit gamma 2 Enzyme modulator 1.00 0.582 0.654
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692
RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough 0.36 0.861 0.154
GLA P06280 galactosidase alpha 1.00 0.537 0.769
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731
MYL3 P08590 myosin light chain 3 Calcium-binding protein 8.8E-02 0.695 0.308
ACTN2 P35609 actinin alpha 2 1.00 0.686 0.462