Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
TTN-AS1 TTN antisense RNA 1 0.599 0.577
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
MYRF Q9Y2G1 myelin regulatory factor 1.00 0.584 0.731
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
CYP11A1 P05108 cytochrome P450 family 11 subfamily A member 1 5.5E-07 0.547 0.731
MMUT P22033 methylmalonyl-CoA mutase Enzyme 1.7E-22 0.534 0.731
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
TBX5 Q99593 T-box transcription factor 5 Transcription factor 1.00 0.528 0.769
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808