Snowflake vitreoretinal degeneration; SVD

Disease ID:869
Name:Snowflake vitreoretinal degeneration; SVD
Associated with:1 target
Database Links
OMIM: 193230
Orphanet: ORPHA91496

Targets

Kir7.1
References:  1-2

Ligands

No ligand related data available for Snowflake vitreoretinal degeneration; SVD

References

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1. Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am. J. Hum. Genet., 82 (1): 174-80. [PMID:18179896]

2. Zhang W, Zhang X, Wang H, Sharma AK, Edwards AO, Hughes BA. (2013) Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. Am. J. Physiol., Cell Physiol., 304 (5): C440-9. [PMID:23255580]