Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
---|---|---|---|---|---|---|---|---|
NIPBL | Q6KC79 | NIPBL cohesin loading factor | Nucleic acid binding | 1.00 | 0.521 | 0.808 | 225 | 270 |
SMC3 | Q9UQE7 | structural maintenance of chromosomes 3 | 1.00 | 0.535 | 0.846 | 193 | 21 | |
ESCO2 | Q56NI9 | establishment of sister chromatid cohesion N-acetyltransferase 2 | 3.2E-07 | 0.581 | 0.615 | 124 | 30 | |
RORC | P51449 | RAR related orphan receptor C | Nuclear receptor | 1.00 | 0.576 | 0.769 | 88 | 6 |
MT1L | Q93083 | metallothionein 1L, pseudogene | 0.633 | 0.692 | 49 | 1 | ||
DDX11 | Q96FC9 | DEAD/H-box helicase 11 | Enzyme | 2.3E-21 | 0.674 | 0.577 | 44 | 5 |
MELTF | P08582 | melanotransferrin | Enzyme | 1.2E-16 | 0.663 | 0.500 | 40 | 1 |
SS18L1 | O75177 | SS18L1 subunit of BAF chromatin remodeling complex | Nucleic acid binding | 0.98 | 0.670 | 0.538 | 35 | 3 |
ESCO1 | Q5FWF5 | establishment of sister chromatid cohesion N-acetyltransferase 1 | 1.00 | 0.682 | 0.462 | 32 | 4 | |
FTMT | Q8N4E7 | ferritin mitochondrial | Storage | 5.6E-03 | 0.686 | 0.423 | 29 | 0 |
ZW10 | O43264 | zw10 kinetochore protein | Cellular structure | 1.5E-03 | 0.792 | 0.192 | 8 | 1 |