Disease: Congenital coloboma of iris
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGF3 P11487 fibroblast growth factor 3 Signaling 9.3E-05 0.505 0.808
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
FZD5 Q13467 frizzled class receptor 5 G-protein coupled receptor 0.98 0.587 0.615
GDF3 Q9NR23 growth differentiation factor 3 Signaling 4.1E-05 0.595 0.500
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
HCCS P53701 holocytochrome c synthase Enzyme 0.89 0.559 0.731
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
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
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PAX6 P26367 paired box 6 1.00 0.450 0.769
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 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
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500