Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AEBP1 Q8IUX7 AE binding protein 1 7.3E-11 0.631 0.654
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP6V1B2 P21281 ATPase H+ transporting V1 subunit B2 Transporter 0.99 0.606 0.577
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B3GALT6 Q96L58 beta-1,3-galactosyltransferase 6 2.3E-02 0.631 0.615
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
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
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
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
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846