GENE NAME | CDHR1 |
CHROMOSOME | 10 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000148600 |
UNIPROT ACCESSION NUMBER | A0A0A6YYA3 |
GO MOLECULAR FUNCTION | ['molecular_function', 'calcium ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
3 combinations linked to CDHR1 | OLI1691; OLI1682; OLI1680 |
3 variants linked to CDHR1 | CDHR1:c.1133G>A, p.Arg378Gln; CDHR1:c.931C>A, p.Leu311Ile; CDHR1:c.1397A>G, p.Asn466Ser |
1 disease linked to CDHR1 | Non-Syndromic genetic keratoconus |