Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
CACNB2 Q08289 calcium voltage-gated channel auxiliary subunit beta 2 Ion channel 2.7E-06 0.659 0.538 8
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769 2
RYR2 Q92736 ryanodine receptor 2 Ion channel 1.00 0.539 0.615 2
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 1
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 1
ALPK3 Q96L96 alpha kinase 3 Kinase 8.4E-25 0.792 0.462 1
ANKRD1 Q15327 ankyrin repeat domain 1 2.6E-10 0.628 0.692 1
CALR3 Q96L12 calreticulin 3 Calcium-binding protein 7.0E-10 0.839 0.154 1
CASQ2 O14958 calsequestrin 2 1.4E-12 0.691 0.385 1
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 1
KLF10 Q13118 Kruppel like factor 10 Nucleic acid binding 4.6E-03 0.631 0.615 1
MYH6 P13533 myosin heavy chain 6 1.6E-32 0.581 0.615 1
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 1
MYL3 P08590 myosin light chain 3 Calcium-binding protein 8.8E-02 0.695 0.308 1
MYLK2 Q9H1R3 myosin light chain kinase 2 Kinase 0.23 0.705 0.269 1
MYOM1 P52179 myomesin 1 1.7E-40 0.839 0.269 1
MYOZ2 Q9NPC6 myozenin 2 Cellular structure 1.6E-03 0.716 0.308 1
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615 1
OBSCN Q5VST9 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Kinase 1.9E-164 0.736 0.538 1
PDLIM3 Q53GG5 PDZ and LIM domain 3 Cellular structure 3.0E-07 0.547 0.769 1
PRKAG2 Q9UGJ0 protein kinase AMP-activated non-catalytic subunit gamma 2 Enzyme modulator 1.00 0.582 0.654 1
TCAP O15273 titin-cap 0.19 0.682 0.538 1
TMPO P42166 P42167 thymopoietin Signaling 1.5E-07 0.631 0.577 1
TNNC1 P63316 troponin C1, slow skeletal and cardiac type Calcium-binding protein 0.68 0.647 0.462 1