Disease: Brachycephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ADAMTSL1 Q8N6G6 ADAMTS like 1 Enzyme 3.1E-12 0.682 0.654
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
IRX5 P78411 iroquois homeobox 5 Transcription factor 0.97 0.623 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846