Disease: Delayed speech and language development
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MCOLN1 Q9GZU1 mucolipin 1 Ion channel 5.8E-04 0.601 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500