Disease: Congenital ocular coloboma (disorder)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH1A3 P47895 aldehyde dehydrogenase 1 family member A3 Enzyme 0.14 0.578 0.654
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654
GDF6 Q6KF10 growth differentiation factor 6 0.99 0.587 0.500
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
MAB21L2 Q9Y586 mab-21 like 2 0.44 0.743 0.308
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
NDP Q00604 norrin cystine knot growth factor NDP 0.65 0.566 0.692
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
PAX6 P26367 paired box 6 1.00 0.450 0.769
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
RAX Q9Y2V3 retina and anterior neural fold homeobox 0.10 0.729 0.346
RBP4 P02753 retinol binding protein 4 Transporter 0.52 0.493 0.808