Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
TSPEAR Q8WU66 thrombospondin type laminin G domain and EAR repeats 2.4E-17 0.736 0.385
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885