Disease: Congenital coloboma of iris
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
FKTN O75072 fukutin 8.7E-07 0.511 0.692
PAX6 P26367 paired box 6 1.00 0.450 0.769
RXYLT1 Q9Y2B1 ribitol xylosyltransferase 1 1.1E-06 0.633 0.462
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
MMP14 P50281 matrix metallopeptidase 14 Enzyme 1.00 0.447 0.769
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
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