Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AFF2 P51816 AF4/FMR2 family member 2 Transcription factor 1.00 0.636 0.538
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
CCDC28B Q9BUN5 coiled-coil domain containing 28B Receptor 3.2E-09 0.659 0.538
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
HMGA2 P52926 high mobility group AT-hook 2 Nucleic acid binding 0.87 0.429 0.808
IPW imprinted in Prader-Willi syndrome 0.682 0.423
IRF6 O14896 interferon regulatory factor 6 Transcription factor 1.00 0.486 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577