Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
BGN P21810 biglycan 0.45 0.484 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CKAP2L Q8IYA6 cytoskeleton associated protein 2 like 1.6E-04 0.666 0.577
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
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
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808
DDR2 Q16832 discoidin domain receptor tyrosine kinase 2 Kinase 0.55 0.541 0.769
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731