Disease: Delayed speech and language development
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654