Disease: Coloboma of iris
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
CRYAA A0A140G945 P02489 crystallin alpha A 0.17 0.653 0.385
CRYBA4 P53673 crystallin beta A4 3.5E-09 0.716 0.269
CRYBB1 P53674 crystallin beta B1 7.0E-04 0.686 0.231
CRYBB2 P43320 crystallin beta B2 0.39 0.623 0.462
CRYGC P07315 crystallin gamma C 6.1E-04 0.612 0.577
CRYGD P07320 crystallin gamma D 3.0E-04 0.510 0.808
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MMP14 P50281 matrix metallopeptidase 14 Enzyme 1.00 0.447 0.769
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
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500