Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN-AS1 TTN antisense RNA 1 0.599 0.577
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
CYP11A1 P05108 cytochrome P450 family 11 subfamily A member 1 5.5E-07 0.547 0.731
DMD P11532 dystrophin 1.00 0.423 0.923
MMUT P22033 methylmalonyl-CoA mutase Enzyme 1.7E-22 0.534 0.731
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885