Disease: Short neck
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
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
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
GUSB P08236 glucuronidase beta 4.0E-08 0.530 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NBAS A2RRP1 NBAS subunit of NRZ tethering complex 5.0E-43 0.566 0.692
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769