Disease: Coloboma of iris
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
DLL1 O00548 delta like canonical Notch ligand 1 1.00 0.492 0.808
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
FGF8 P55075 fibroblast growth factor 8 Signaling 0.68 0.507 0.769
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
ZIC2 O95409 Zic family member 2 Transcription factor 0.97 0.556 0.769
SIX3 O95343 SIX homeobox 3 Transcription factor 0.95 0.560 0.692
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
TDGF1 P13385 teratocarcinoma-derived growth factor 1 Calcium-binding protein 9.2E-11 0.584 0.731