Disease: Visual Impairment
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SRY Q05066 sex determining region Y Transcription factor 0.456 0.808
SOX3 P41225 SRY-box transcription factor 3 Transcription factor 0.45 0.535 0.731
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
SOST Q9BQB4 sclerostin 0.87 0.474 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
SLX4 Q8IY92 SLX4 structure-specific endonuclease subunit 1.6E-22 0.565 0.731
SLC39A4 Q6P5W5 solute carrier family 39 member 4 Transporter 3.1E-04 0.628 0.692
SLC19A2 O60779 solute carrier family 19 member 2 Transporter 4.3E-04 0.636 0.692
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885
SDHAF1 A6NFY7 succinate dehydrogenase complex assembly factor 1 8.7E-02 0.656 0.462
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
RFWD3 Q6PCD5 ring finger and WD repeat domain 3 Enzyme 3.5E-10 0.569 0.731
RFT1 Q96AA3 RFT1 homolog 3.7E-13 0.700 0.500
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
PTPN22 Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 3.5E-21 0.438 0.846
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PROKR2 Q8NFJ6 prokineticin receptor 2 G-protein coupled receptor 2.4E-06 0.538 0.731
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846