Details for Gene EDA

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 OLI162; OLI163; OLI164; OLI160; OLI159; OLI161
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

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