Disease: Ophthalmoplegia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
ARL2BP Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 3.3E-05 0.647 0.654
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885
CISD2 Q8N5K1 CDGSH iron sulfur domain 2 0.42 0.590 0.692
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
GPC1 P35052 glypican 1 1.6E-02 0.587 0.731
LY6E Q16553 lymphocyte antigen 6 family member E 0.32 0.563 0.808
MAP3K20 Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 8.4E-09 0.564 0.769
MERTK Q12866 MER proto-oncogene, tyrosine kinase Kinase 2.7E-11 0.531 0.692
MICU1 Q9BPX6 mitochondrial calcium uptake 1 Calcium-binding protein 1.9E-13 0.638 0.654
NEK2 P51955 NIMA related kinase 2 Kinase 1.2E-06 0.572 0.692
NF2 P35240 neurofibromin 2 1.00 0.468 0.885
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
PDGFB P01127 platelet derived growth factor subunit B Signaling 0.77 0.488 0.846
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
PROM1 O43490 prominin 1 Transporter 1.9E-22 0.410 0.846
PRPF31 Q8WWY3 pre-mRNA processing factor 31 Nucleic acid binding 0.98 0.531 0.731
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962