Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 19 17
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 11 19
ALPK3 Q96L96 alpha kinase 3 Kinase 8.4E-25 0.792 0.462 3 7
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692 5 3
CEP85L Q5SZL2 centrosomal protein 85 like 4.5E-09 0.656 0.423 9 4
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731 8 15
CSRP3 P50461 cysteine and glycine rich protein 3 Cellular structure 1.6E-04 0.572 0.731 4 12
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308 4 2
DSC2 Q02487 desmocollin 2 Cell adhesion 5.2E-08 0.610 0.538 5 20
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692 6 36
DSG2-AS1 DSG2 antisense RNA 1 0.890 0.077 5 9
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 28 131
EMD P50402 emerin 0.93 0.542 0.731 8 25
FLNC Q14315 filamin C 1.00 0.568 0.615 18 52
GLA P06280 galactosidase alpha 1.00 0.537 0.769 5 140
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731 5 42
LMNA P02545 lamin A/C 1.00 0.384 0.885 46 196
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615 7 19