The Gene Details table provides information on each NESHIE-associated gene including the gene symbol, genomic cytoband position, and residual variation intolerance scores (RVIS). RVIS scores provide a measure of gene variation intolerance and consequential disease susceptibility. RVIS scores below zero are indicative of variation intolerance. The RVIS percentage provides information on the intolerance rank of the gene compared to all other genes.
Clicking on a gene name will redirect to a page listing all the disease phenotype ontology information on the selected gene.
| Gene symbol | Cytoband position | OMIM ID | RVIS score | RVIS percentage | Publication Count |
|---|---|---|---|---|---|
| IL6 | 7p15.3 | 147620 | 0.73 | 85.98 | 6 |
| AGT | 1q42-43 | 106150 | 0.49 | 79.61 | 1 |
| CARD8 | 19q13.33 | 609051 | 1.18 | 92.79 | 2 |
| CAT | 11p13 | 115500 | -0.31 | 32.15 | 2 |
| IL1B | 2q14.1 | 147720 | -0.38 | 27.42 | 5 |
| MTHFR | 1p36.22 | 607093 | 0.09 | 60.71 | 6 |
| NOS3 | 7q35-36 | 163729 | -1.10 | 6.97 | 5 |
| TNF | 6p21.3 | 191160 | -0.03 | 51.40 | 3 |
| IL10 | 1q32.1 | 124092 | 0.04 | 56.64 | 2 |
| DYNC2H1 | 11q22.3 | 603297 | -0.35 | 29.56 | 1 |
| KANK1 | 9p24.3 | 607704 | -0.92 | 9.78 | 2 |
| NR1I2 | 3q13.33 | 603065 | -0.55 | 19.86 | 2 |
| EIF4E2 | 2q37.1 | 605895 | -0.34 | 30.07 | 2 |
| OLIG2 | 21q22.11 | 606386 | None | None | 1 |
| AP4B1 | 1p13.2 | 607245 | -0.13 | 44.30 | 1 |
| COL4A4 | 2q36.3 | 120131 | 1.04 | 91.27 | 2 |
| SMARCB1 | 22q11.23 | 601607 | -0.34 | 30.07 | 2 |
| GNAO1 | 16q13 | 139311 | -0.74 | 13.94 | 10 |
| PANK2 | 20p13 | 606157 | -0.23 | 37.11 | 2 |
| SCN1A | 2q24.3 | 182389 | -1.43 | 4.03 | 5 |
| COL4A1 | 13q34 | 120130 | -2.82 | 0.62 | 11 |
| ACTA1 | 1q42.13 | 102610 | -0.30 | 32.62 | 1 |
| DUOX2 | 15q21.1 | 606759 | 0.23 | 68.52 | 3 |
| PTPN11 | 12q24.13 | 176876 | -0.43 | 25.15 | 2 |
| SERPINB2 | 18q21.33-q22.1 | 173390 | 0.20 | 67.36 | 1 |
| NOS2 | 17q11.2 | 163730 | -1.68 | 2.69 | 1 |
| KCNQ2 | 20q13.33 | 602235 | -0.67 | 15.86 | 5 |
| SCN9A | 2q24.3 | 603415 | 0.33 | 73.63 | 1 |
| MTFMT | 15q22.31 | 611766 | 0.71 | 85.53 | 2 |
| CDKL5 | Xp22.13 | 300203 | -0.67 | 15.86 | 4 |
| KIF1A | 2q37.3 | 601255 | -3.67 | 0.27 | 6 |
| ISY1 | 3q21.3 | 612764 | -0.10 | 46.20 | 1 |
| CFTR | 7q31.2 | 602421 | -0.51 | 21.73 | 2 |
| CYP21A2 | 6p21.33 | 613815 | None | None | 1 |
| AUTS2 | 7q11.22 | 607270 | -1.97 | 2.09 | 4 |
| PHIP | 6q14.1 | 612870 | -1.24 | 0.82 | 3 |
| ZDHHC9 | Xq26.1 | 300646 | -0.12 | 44.54 | 3 |
| GBE1 | 3p12.2 | 607839 | 0.62 | 83.53 | 1 |