Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
ACTB | P60709 | actin beta | Cellular structure | 0.99 | 0.325 | 0.923 |
BBS10 | Q8TAM1 | Bardet-Biedl syndrome 10 | 1.7E-12 | 0.644 | 0.538 | |
CACNA1A | O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 1.00 | 0.489 | 0.769 |
CDH23 | Q9H251 | cadherin related 23 | 3.2E-06 | 0.539 | 0.769 | |
COL2A1 | P02458 | collagen type II alpha 1 chain | 1.00 | 0.444 | 0.846 | |
CTNNB1 | P35222 | catenin beta 1 | 1.00 | 0.303 | 0.885 | |
DNMT3A | Q9Y6K1 | DNA methyltransferase 3 alpha | 7.4E-39 | 0.445 | 0.846 | |
ECHS1 | P30084 | enoyl-CoA hydratase, short chain 1 | Enzyme | 8.8E-04 | 0.601 | 0.654 |
EFTUD2 | Q15029 | elongation factor Tu GTP binding domain containing 2 | Enzyme | 1.00 | 0.647 | 0.462 |
FGFR2 | P21802 | fibroblast growth factor receptor 2 | Kinase | 1.00 | 0.380 | 0.808 |
GMPPB | Q9Y5P6 | GDP-mannose pyrophosphorylase B | 8.4E-07 | 0.578 | 0.538 | |
GUCY2D | Q02846 | guanylate cyclase 2D, retinal | Kinase | 6.5E-10 | 0.570 | 0.769 |
HADHA | P40939 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Enzyme | 4.4E-06 | 0.569 | 0.769 |
LCA5 | Q86VQ0 | lebercilin LCA5 | 4.1E-05 | 0.674 | 0.269 | |
MYO7A | Q13402 | myosin VIIA | Cellular structure | 1.6E-38 | 0.585 | 0.423 |
NDUFAF2 | Q8N183 | NADH:ubiquinone oxidoreductase complex assembly factor 2 | 2.1E-06 | 0.641 | 0.577 | |
OTX2 | P32243 | orthodenticle homeobox 2 | Transcription factor | 0.92 | 0.514 | 0.808 |
PDHA1 | P08559 | pyruvate dehydrogenase E1 subunit alpha 1 | 0.99 | 0.581 | 0.538 | |
PTEN | P60484 | phosphatase and tensin homolog | Enzyme | 0.26 | 0.305 | 0.923 |
SMC1A | Q14683 | structural maintenance of chromosomes 1A | 1.00 | 0.509 | 0.808 | |
SOS1 | Q07889 | SOS Ras/Rac guanine nucleotide exchange factor 1 | Enzyme modulator | 1.00 | 0.485 | 0.808 |
TWIST2 | Q8WVJ9 | twist family bHLH transcription factor 2 | Transcription factor | 0.56 | 0.518 | 0.731 |
USH2A | O75445 | usherin | Enzyme modulator | 1.6E-94 | 0.579 | 0.692 |