bardet-biedl syndrome Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (Human Disease Ontology, DOID_1935)
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Genes

4 genes associated with the disease bardet-biedl syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
BBS7 Bardet-Biedl syndrome 7
CCDC28B coiled-coil domain containing 28B
NXNL1 nucleoredoxin-like 1
TTC8 tetratricopeptide repeat domain 8