Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269
TSPEAR Q8WU66 thrombospondin type laminin G domain and EAR repeats 2.4E-17 0.736 0.385
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
TRPM3 Q9HCF6 transient receptor potential cation channel subfamily M member 3 Ion channel 5.7E-07 0.663 0.769
TRNT tRNA 0.729 0.538
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654