Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
HTT P42858 huntingtin 1.00 0.548 0.654
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
RELN P78509 reelin 1.00 0.515 0.731
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
CUL3 Q13618 cullin 3 1.00 0.592 0.654
PTCH1 Q13635 patched 1 1.00 0.398 0.885
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692