Disease: Microcephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
SMN2 Q16637 survival of motor neuron 2, centromeric 0.10 0.459 0.769