Disease: Abnormality of retinal pigmentation
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
LMNA P02545 lamin A/C 1.00 0.384 0.885
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
PROM1 O43490 prominin 1 Transporter 1.9E-22 0.410 0.846
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
TNFRSF11B O00300 TNF receptor superfamily member 11b 0.16 0.422 0.808
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
RHO P08100 rhodopsin G-protein coupled receptor 1.3E-04 0.525 0.769
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769