Disease: Macrostomia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
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
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577
GALNS P34059 galactosamine (N-acetyl)-6-sulfatase Enzyme 3.0E-10 0.560 0.808
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
IRX5 P78411 iroquois homeobox 5 Transcription factor 0.97 0.623 0.846
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NXN Q6DKJ4 nucleoredoxin 1.00 0.584 0.577