bardet-biedl syndrome Gene Set

Dataset	DISEASES Curated Gene-Disease Association Evidence Scores
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

21 genes involed in the disease bardet-biedl syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol	Name
ARL6	ADP-ribosylation factor-like 6
BBS1	Bardet-Biedl syndrome 1
BBS10	Bardet-Biedl syndrome 10
BBS12	Bardet-Biedl syndrome 12
BBS2	Bardet-Biedl syndrome 2
BBS4	Bardet-Biedl syndrome 4
BBS5	Bardet-Biedl syndrome 5
BBS7	Bardet-Biedl syndrome 7
BBS9	Bardet-Biedl syndrome 9
CCDC28B	coiled-coil domain containing 28B
CEP290	centrosomal protein 290kDa
IFT27	intraflagellar transport 27
KIF7	kinesin family member 7
LZTFL1	leucine zipper transcription factor-like 1
MKKS	McKusick-Kaufman syndrome
MKS1	Meckel syndrome, type 1
TMEM67	transmembrane protein 67
TRIM32	tripartite motif containing 32
TTC21B	tetratricopeptide repeat domain 21B
TTC8	tetratricopeptide repeat domain 8
WDPCP	WD repeat containing planar cell polarity effector