Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577
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
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
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 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