Sveinsson Chorioretinal Atrophy Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. (Orphanet Rare Disease Ontology, Orphanet_86813)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C566236
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Genes

1 genes/proteins associated with the disease Sveinsson Chorioretinal Atrophy from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 2.88009