GENE NAME | EDA |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000158813 |
ENTREZ ID | 1896 |
UNIPROT ACCESSION NUMBER | Q92838 |
GO MOLECULAR FUNCTION | protein binding; signaling receptor binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04064; hsa04060; R-HSA-168256; R-HSA-1280215; R-HSA-5669034; R-HSA-5668541 |
6 combinations linked to EDA | OLI161; OLI163; OLI160; OLI164; OLI159; OLI162 |
6 variants linked to EDA | EDA:c.769G>C, p.Gly257Arg; EDA:c.936C>G, p.Ile312Met; EDA:c.252delT, p.Gly85AlafsTer6; EDA:c.457C>T, p.Arg153Cys; EDA:c.466C>T, p.Arg156Cys; EDA:c.1045G>A, p.Ala349Thr |
1 disease linked to EDA | Hypodontia |