Disease: Anophthalmos
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
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
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577
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
CEP55 Q53EZ4 centrosomal protein 55 2.0E-12 0.534 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
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
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
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
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 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
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