GENE NAME | EVC |
CHROMOSOME | 4 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000072840 |
UNIPROT ACCESSION NUMBER | None |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04340; R-HSA-162582; R-HSA-5358351; R-HSA-5632684; R-HSA-5635838 |
4 combinations linked to EVC | OLI603; OLI352; OLI1245; OLI597 |
6 variants linked to EVC | EVC:c.1316-20G>T, ; EVC:c.1564-6C>T, ; EVC:c.1653G>A, p.Pro551=; EVC:c.1892C>T, p.Thr631Met; EVC:c.2240C>T, p.Ala747Val; EVC:c.1694delC, p.Ala565ValfsTer23 |
3 diseases linked to EVC | Disorder of sex development; Hypodontia; 46,XY disorder of sex development |