Disease: Brachycephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
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
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
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
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
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
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GATA1 P15976 GATA binding protein 1 0.95 0.483 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
HSPA9 P38646 heat shock protein family A (Hsp70) member 9 0.97 0.502 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808