Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
XYLT1 Q86Y38 xylosyltransferase 1 0.92 0.581 0.731
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
THRB P10828 thyroid hormone receptor beta Nuclear receptor 1.00 0.554 0.769
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
SIM1 P81133 SIM bHLH transcription factor 1 Transcription factor 1.00 0.626 0.654
SH2B1 Q9NRF2 SH2B adaptor protein 1 0.97 0.566 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
RPL10 P27635 ribosomal protein L10 Nucleic acid binding 0.91 0.568 0.731
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808