Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885
REV3L O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 1.00 0.588 0.654
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
UBA1 P22314 ubiquitin like modifier activating enzyme 1 Enzyme 1.00 0.666 0.615
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PLXND1 Q9Y4D7 plexin D1 1.00 0.647 0.577
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808