Disease: Congenital 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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FLNA P21333 filamin A 1.00 0.419 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
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
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
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
MPDZ O75970 multiple PDZ domain crumbs cell polarity complex component 5.8E-38 0.638 0.500
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PIBF1 Q8WXW3 progesterone immunomodulatory binding factor 1 1.9E-11 0.670 0.462
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