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
CDON Q4KMG0 cell adhesion associated, oncogene regulated 2.1E-15 0.601 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DISP1 Q96F81 dispatched RND transporter family member 1 8.9E-08 0.644 0.692
DLL1 O00548 delta like canonical Notch ligand 1 1.00 0.492 0.808
FGF8 P55075 fibroblast growth factor 8 Signaling 0.68 0.507 0.769
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
FOXH1 O75593 forkhead box H1 4.2E-02 0.615 0.654
GAS1 P54826 growth arrest specific 1 0.82 0.587 0.654
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
NODAL Q96S42 nodal growth differentiation factor Signaling 0.97 0.588 0.731
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846