Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
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
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
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
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
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
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
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731