Disease: Congenital coloboma of iris
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
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
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
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
MMP14 P50281 matrix metallopeptidase 14 Enzyme 1.00 0.447 0.769
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
PAX6 P26367 paired box 6 1.00 0.450 0.769
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692
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