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Digital arthropathy-brachydactyly; familial; FDAB

Disease ID:349
Name:Digital arthropathy-brachydactyly; familial; FDAB
Associated with:1 target
Synonyms
Familial digital arthropathy-brachydactyly
Database Links
OMIM: 606835
Orphanet: ORPHA85169

Targets

TRPV4
Mutations:  TRPV4 is associated with 3 mutation. Click here for details

Ligands

No ligand related data available for Digital arthropathy-brachydactyly; familial; FDAB

References

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1. Lamandé SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ et al.. (2011) Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat. Genet., 43 (11): 1142-6. [PMID:21964574]