Disease: Delayed speech and language development
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
MCOLN1 Q9GZU1 mucolipin 1 Ion channel 5.8E-04 0.601 0.654
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
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
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731