Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ANK1 P16157 ankyrin 1 1.00 0.540 0.885
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARL6IP6 Q8N6S5 ADP ribosylation factor like GTPase 6 interacting protein 6 1.8E-02 0.686 0.615
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
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
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923