Disease: Brachycephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CCDC47 Q96A33 coiled-coil domain containing 47 6.1E-08 0.678 0.462
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FREM1 Q5H8C1 FRAS1 related extracellular matrix 1 1.6E-52 0.633 0.423
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
PGAP2 Q9UHJ9 post-GPI attachment to proteins 2 Enzyme modulator 0.93 0.633 0.615
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
PIGO Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 6.1E-11 0.636 0.615
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615
PIGW Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 1.2E-05 0.633 0.654
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SIM1 P81133 SIM bHLH transcription factor 1 Transcription factor 1.00 0.626 0.654
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SMS P52788 spermine synthase 0.97 0.491 0.846
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808