Disease: Delayed speech and language development
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
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
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
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
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MCOLN1 Q9GZU1 mucolipin 1 Ion channel 5.8E-04 0.601 0.654
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538