Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CCDC8 Q9H0W5 coiled-coil domain containing 8 0.25 0.599 0.692
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 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
CRIPT Q9P021 CXXC repeat containing interactor of PDZ3 domain 9.8E-04 0.716 0.308
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GK P32189 glycerol kinase Kinase 0.99 0.656 0.577
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
H19 H19 imprinted maternally expressed transcript 0.494 0.923
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KCNJ1 P48048 potassium inwardly rectifying channel subfamily J member 1 Ion channel 4.6E-05 0.619 0.577
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769