Disease: Abnormality of retinal pigmentation
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
COX7B P24311 cytochrome c oxidase subunit 7B 0.67 0.595 0.654
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DHX38 Q92620 DEAH-box helicase 38 Enzyme 2.1E-12 0.711 0.346
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
EPG5 Q9HCE0 ectopic P-granules autophagy protein 5 homolog 1.4E-13 0.623 0.769
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
EYS Q5T1H1 eyes shut homolog 3.7E-41 0.631 0.538
FAM161A Q3B820 FAM161 centrosomal protein A 5.1E-13 0.691 0.308
FSCN2 O14926 fascin actin-bundling protein 2, retinal Cellular structure 3.8E-13 0.682 0.346
GDF6 Q6KF10 growth differentiation factor 6 0.99 0.587 0.500
GUCA1B Q9UMX6 guanylate cyclase activator 1B 2.1E-04 0.682 0.423
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
HCCS P53701 holocytochrome c synthase Enzyme 0.89 0.559 0.731
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
IDH3A P50213 isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Enzyme 0.16 0.705 0.385
IDH3B O43837 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta Enzyme 3.0E-11 0.700 0.462
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692