Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 28 131
ACTN2 P35609 actinin alpha 2 1.00 0.686 0.462 4 4
LMNA P02545 lamin A/C 1.00 0.384 0.885 46 196
RBM20 Q5T481 RNA binding motif protein 20 0.99 0.716 0.269 5 13
SLC12A2 P55011 solute carrier family 12 member 2 Transporter 0.96 0.552 0.808 3 1
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 36 154
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 11 19
TAZ Q16635 tafazzin Enzyme 0.73 0.477 0.808 4 24
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846 6 27
PLN P26678 phospholamban 0.45 0.595 0.577 9 4
HAND2 P61296 heart and neural crest derivatives expressed 2 0.40 0.612 0.500 2 1
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731 5 42
TCAP O15273 titin-cap 0.19 0.682 0.538 6 11
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
VCL P18206 vinculin 4.7E-02 0.575 0.654 4 10
PPP1R13L Q8WUF5 protein phosphatase 1 regulatory subunit 13 like 3.2E-02 0.539 0.692 4 1
DES P17661 desmin 8.8E-03 0.460 0.846 24 47
KCNE1 P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 3.4E-03 0.588 0.615 9 12
TNNT2 P45379 troponin T2, cardiac type Cellular structure 2.0E-03 0.601 0.423 11 48
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615 11 37
NCAPH2 Q6IBW4 non-SMC condensin II complex subunit H2 2.9E-04 0.805 0.385 5 8