Disease: Abnormality of retinal pigmentation
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846
ELMO2 Q96JJ3 engulfment and cell motility 2 Signaling 1.0E-05 0.729 0.538
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
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
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
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
IMPDH1 P20839 inosine monophosphate dehydrogenase 1 Enzyme 5.8E-06 0.623 0.462
IMPG2 Q9BZV3 interphotoreceptor matrix proteoglycan 2 Extracellular structure 2.8E-13 0.659 0.308
KIAA1549 Q9HCM3 KIAA1549 0.99 0.615 0.346
KIZ Q2M2Z5 kizuna centrosomal protein 0.722 0.308
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
LMNA P02545 lamin A/C 1.00 0.384 0.885
LRAT O95237 lecithin retinol acyltransferase 2.8E-02 0.608 0.654