Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CDK5 Q00535 cyclin dependent kinase 5 Kinase 0.14 0.495 0.846
CEP55 Q53EZ4 centrosomal protein 55 2.0E-12 0.534 0.731
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COASY Q13057 Coenzyme A synthase Enzyme 8.1E-10 0.551 0.654
COG8 Q96MW5 component of oligomeric golgi complex 8 3.0E-09 0.653 0.500
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
ERGIC1 Q969X5 endoplasmic reticulum-golgi intermediate compartment 1 0.65 0.700 0.423
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808