Disease: Autistic Disorder
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RLIM Q9NVW2 ring finger protein, LIM domain interacting 0.99 0.686 0.500
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
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654