Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
CDC6 Q99741 cell division cycle 6 1.1E-09 0.552 0.731
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
FLCN Q8NFG4 folliculin 0.79 0.537 0.885
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
H19 H19 imprinted maternally expressed transcript 0.494 0.923
HMGA2 P52926 high mobility group AT-hook 2 Nucleic acid binding 0.87 0.429 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNJ2 P63252 potassium inwardly rectifying channel subfamily J member 2 Ion channel 0.31 0.572 0.731