Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731