Bardet-biedl Syndrome malady

NIH Rare Diseases: Bardet-Biedl syndrome is an inherited condition that affects many parts of the body. People with this condition have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties. At least 14 genes are known to be associated with Bardet-Biedl syndrome. This condition is usually inherited in an autosomal recessive pattern.³⁰

MalaCards: Bardet-biedl Syndrome, also known as biedl-bardet syndrome, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 12. An important gene associated with Bardet-biedl Syndrome is BBS10 (Bardet-Biedl syndrome 10), and among its related pathways is Loss of Nlp from mitotic centrosomes. The compounds lep (116-130) (mouse) and sibutramine have been mentioned in the context of this disorder. Affiliated tissues include kidney, retina and pituitary, and related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology: A genetic disease that results from mutations in multiple bbs genes affecting cellular cilia structure or function resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.⁶

Genetics Home Reference: Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.¹⁷

Wikipedia: The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and...⁴⁴ more...

GeneReviews summary for bbs

Aliases & Descriptions:

bardet-biedl syndrome 6 7 15 30 17 8 32 43 biedl-bardet syndrome 15 30 16 bbs 30 16 17 laurence-moon syndrome 17 43

laurence-moon-bardet-biedl syndrome 17 laurence-moon-biedl syndrome 17 lmbbs 17 lms 17

Disease types for bardet-biedl syndrome family:

bardet-biedl syndrome 1	bardet-biedl syndrome 10
bardet-biedl syndrome 11	bardet-biedl syndrome 12
bardet-biedl syndrome 2	bardet-biedl syndrome 3
bardet-biedl syndrome 4	bardet-biedl syndrome 5
bardet-biedl syndrome 6	bardet-biedl syndrome 7
bardet-biedl syndrome 8	bardet-biedl syndrome 9
bardet-biedl syndrome 15	bardet-biedl syndrome 14
bardet-biedl syndrome 13

Diseases related to bardet-biedl syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 253)

id	Related Disease	Score	Top Affiliating Genes
1	bardet-biedl syndrome 1	35.9	EHD1, CCDC28B, ENSG00000256349, ARL6, BBS1
2	bardet-biedl syndrome 12	34.4	BBS10, BBS12
3	cep290-related bardet-biedl syndrome	34.2	TMEM67, CEP290, LCA10
4	bardet-biedl syndrome 5	34.0	ENSG00000251569, BBS5
5	tetralogy of fallot	32.2	MKKS, BBS7, BBS4, BBS2, BBS1
6	mckusick-kaufman syndrome	31.5	BBS1, BBS2, BBS4, BBS7, MKKS
7	fundus dystrophy	31.4	CEP290, MKKS, ARL6, ARL13B, INPP5E, TMEM67
8	encephaloceles	31.2	RPGRIP1L, TMEM67, MKS1, CEP290
9	encephalocele	31.2	RPGRIP1L, TMEM67, MKS1, CEP290
10	meckel syndrome	30.8	BBS4, BBS5, BBS7, LCA10, CEP290, MKKS
11	pigmentary retinopathy	30.2	TTC21B, TTC8, TMEM67, TRIM32, BBS5, BBS7
12	asphyxiating thoracic dystrophy	30.0	NPHP4, BBS4, BBS7, ARL13B, INVS, TMEM67
13	obesity	29.7	MKKS, MKS1, ARL6, INPP5E, INS, MCHR1
14	retinal degeneration	29.0	BBS7, RAB8A, USH1C, USH2A, BBS1, BBS2
15	joubert syndrome	28.8	INVS, TMEM67, RPGRIP1L, TTC21B, NPHP4, INPP5E
16	senior-loken syndrome	28.7	LCA10, CEP290, MKS1, ARL13B, INVS, TMEM67
17	usher syndrome	28.6	PCDH15, USH1A, USH1C, USH2A, CDH23
18	polydactyly	28.0	TTC8, TTC21B, ARL13B, INPP5E, INS, IFT88
19	diabetes mellitus	26.9	MKS1, ARL6, INS, ALDOB, ALMS1, TRIM32
20	hypertension	26.9	MKKS, MKS1, ARL6, INS, TRIM32, TMEM67
21	retinal disease	26.8	PCDH15, USH1C, USH2A, BBS1, BBS10, BBS2
22	hypogonadism	26.6	LSL, ALMS1, INS, CGA, BBS2, BBS1
23	retinitis	24.6	PCDH15, KIFC3, KIF7, KIF3A, RAB8A, USH1A
24	neuronitis	23.7	TRIM32, TRAF3IP1, IFT88, IFT57, IGDCC3, ENSG00000256349
25	blindness	21.4	INS, ALMS1, LSL, TTC8, OPN1SW, NXNL1
26	joubert syndrome with oculorenal anomalies	13.7	CEP290, LCA10
27	senior-loken syndrome 6	13.7	LCA10, CEP290
28	leber congenital amaurosis 10	13.7	LCA10, CEP290
29	meckel syndrome type 4	13.7	LCA10, CEP290
30	multicystic renal dysplasia, bilateral	13.6	TMEM67, MKS1, CEP290, PAX2
31	joubert syndrome and related disorders	13.6	RPGRIP1L, TMEM67, INVS, MKKS, CEP290
32	orofaciodigital syndrome	13.5	IFT88, CEP290, KIF3A
33	x-linked infantile nystagmus	13.5	SDCCAG8, MKS1, CCDC28B, TTC21B
34	pallister-hall syndrome	13.4	SMO, MKKS, KIF7
35	ellis-van creveld syndrome	13.3	WDR19, MKKS, TTC21B
36	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	13.3	TTC21B, RPGRIP1L, TMEM67, INPP5E, ARL13B, CEP290
37	oculomotor apraxia	13.3	TTC21B, RPGRIP1L, TMEM67, INPP5E, ARL13B, CEP290
38	situs inversus	13.2	NPHP4, LZTFL1, INVS, CEP70, KIF3A
39	hypotonia	13.2	TTC21B, RPGRIP1L, TMEM67, INPP5E, ARL13B, CEP290
40	coach syndrome	13.1	RPGRIP1L, TMEM67
41	apraxia	13.1	NPHP4, TTC21B, RPGRIP1L, TMEM67, INPP5E, ARL13B
42	cystic kidney	13.0	NPHP4, RPGRIP1L, TMEM67, IFT88, INVS, ARL13B
43	nephronophthisis	12.9	SDCCAG8, NPHP4, CEP290, MKS1, ARL13B, INPP5E
44	leptin receptor deficiency	12.9	LEP, LEPR
45	usher syndrome, type 1d	12.8	CDH23, USH1C, PCDH15
46	usher syndrome type 1g	12.8	CDH23, USH1C, PCDH15
47	usher syndrome type i	12.8	CDH23, USH1C, PCDH15
48	usher syndrome, type 1d/f digenic	12.8	PCDH15, CDH23
49	leptin deficiency	12.7	LSL, LEPR, LEP
50	cerebellar ataxia	12.6	TTC21B, RPGRIP1L, TMEM67, INS, INPP5E, ARL13B

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to bardet-biedl syndrome:

²²

MGI Mouse Phenotypes related to bardet-biedl syndrome:

²⁵ (show all 18)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction phenotype	MP:0005394	10.3	MKKS, BBS4, BBS2, BBS1, TTC8
2	craniofacial phenotype	MP:0005382	9.0	IFT57, IFT88, SMO, RPGRIP1L, TTC21B, TTC8
3	respiratory system phenotype	MP:0005388	8.3	INVS, IFT88, SMO, RPGRIP1L, TTC8, EPAS1
4	hearing/vestibular/ear phenotype	MP:0005377	8.0	MKKS, MKS1, IFT88, ALMS1, SMO, CDH23
5	limbs/digits/tail phenotype	MP:0005371	7.9	MKS1, INPP5E, IFT57, IFT88, TRAF3IP1, SMO
6	liver/biliary system phenotype	MP:0005370	7.5	IFT88, ALMS1, RPGRIP1L, KRT18, EPAS1, INVS
7	digestive/alimentary phenotype	MP:0005381	7.4	CDH23, MKS1, INPP5E, INS, INVS, IFT88
8	skeleton phenotype	MP:0005390	7.3	MCHR1, IFT57, IFT88, SMO, RPGRIP1L, TTC21B
9	renal/urinary system phenotype	MP:0005367	7.2	INPP5E, INS, INVS, IFT88, ALMS1, TMEM67
10	cardiovascular system phenotype	MP:0005385	7.2	INVS, MCHR1, IFT57, IFT88, TRAF3IP1, SMO
11	reproductive system phenotype	MP:0005389	7.1	MKKS, MKS1, ARL6, INS, ALMS1, TRIM32
12	embryogenesis phenotype	MP:0005380	7.0	IFT88, TRAF3IP1, TMEM67, SMO, RPGRIP1L, KRT18
13	behavior/neurological phenotype	MP:0005386	6.7	ISLR2, ARL6, INS, MCHR1, IGDCC3, ALMS1
14	homeostasis/metabolism phenotype	MP:0005376	5.8	INS, MCHR1, IFT57, IFT88, ALMS1, TRAF3IP1
15	growth/size phenotype	MP:0005378	5.7	ALMS1, IFT88, IFT57, MCHR1, INVS, INS
16	mortality/aging	MP:0010768	5.6	TMEM67, TRAF3IP1, IFT88, IFT57, INVS, INS
17	vision/eye phenotype	MP:0005391	4.9	EPAS1, BBS7, BBS4, BBS2, BBS1, LEPR
18	nervous system phenotype	MP:0003631	4.2	EPAS1, NPHP4, NXNL1, WDR19, CDH23, CEP290

Articles related to bardet-biedl syndrome:

(show top 50)    (show all 80)

id	Title	Authors	Year	Affiliating Genes
1	Patients with Bardet-Biedl syndrome have hyperleptine mia suggestive of leptin resistance. (21209035)	Feuillan P.P.... Biesecker L.G.	2011	LEP
2	Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. (20120035)	Hjortshoj T.D.... Brondum-Nielsen K.	2010	BBS2, MKKS, BBS10
3	New mutations in BBS genes in small consanguineous fa milies with Bardet-Biedl syndrome: detection of candidate regions by homozygosi ty mapping. (20142850)	Pereiro I.... Nishimura D.	2010	ARL6, BBS2
4	A founder mutation in BBS2 is responsible for Bardet- Biedl syndrome in the Hutterite population: utility of SNP arrays in geneticall y heterogeneous disorders. (20618352)	Innes A.M.... Parboosingh J.S.	2010	BBS2
5	The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. (20603001)	Jin H.... Nachury M.V.	2010	ARL6, BBS7, BBIP1
6	Bardet-Biedl syndrome-associated small GTPase ARL6 (B BS3) functions at or near the ciliary gate and modulates Wnt signaling. (20207729)	Wiens C.J.... Leroux M.R.	2010	ARL6
7	Mutations in chaperonin-like BBS genes are a major co ntributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. (20472660)	Billingsley G.... HAcon E.	2010	MKKS, BBS7, BBS10
8	Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (19190184)	Marion V.... Dollfus H.	2009	BBS10, BBS12
9	BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (19402160)	Bin J.... HAcon E.	2009	BBS7, TTC8, CCDC28B
10	Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome. (19236846)	Kobayashi T.... Katada T.	2009	ARL6
11	Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (18327255)	Leitch C.C.... Katsanis N.	2008	MKS1, TMEM67, CEP290
12	Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. (18299575)	Shah A.S.... Welsh M.J.	2008	BBS4, BBS2
13	Novel interaction partners of Bardet-Biedl syndrome proteins. (18000879)	Oeffner F.... Grzeschik K.H.	2008	ALDOB, DCTN1, PAX2
14	A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. (19093007)	Yang Z.... Xia Q.	2008	BBS7
15	Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. (17980398)	Gerth C.... Heon E.	2008	BBS1, BBS10
16	Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. (18766993)	Cannon P.S.... Lloyd I.C.	2008	BBS1
17	Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. (17160889)	Stoetzel C.... Dollfus H.	2007	BBS10, BBS12
18	Autozygosity mapping of Bardet-Biedl syndrome to 12q2 1.2 and confirmation of FLJ23560 as BBS10. (17106446)	White D.R.... Maher E.R.	2007	BBS10
19	Bardet-Biedl syndrome: a unique family for a major gene (BBS10) (17101080)	Dollfus H.... Mandel J.L.	2006	BBS10
20	Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (16327777)	Badano J.L.... Katsanis N.	2006	CCDC28B
21	Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (16606853)	Chiang A.P.... Sheffield V.C.	2006	PARK2, TRIM32, BBS2
22	Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (16380913)	Nishimura D.Y.... Sheffield V.C.	2005	BBS9
23	Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. (15770229)	Hichri H.... Dollfus H.	2005	BBS4, BBS2, MKKS
24	MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. (15731008)	Kim J.C.... Leroux M.R.	2005	MKKS
25	Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (15666242)	Karmous-Benailly H.... Attie-Bitach T.	2005	BBS4, ARL6, BBS2
26	Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. (15314642)	Fan Y.... Leroux M.R.	2004	ARL6, BBS1, ARL4D
27	Establishing a connection between cilia and Bardet-Biedl Syndrome. (15106604)	Mykytyn K.... Sheffield V.C.	2004	TTC8
28	Cloning and characterization of a splice variant of human Bardet- Biedl syndrome 4 gene (BBS4). (15497446)	Ye X.... Mao Y.	2004	BBS4
29	Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. (15155861)	Sheffield V.C.	2004	BBS4, BBS2, MKKS
30	Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)	Fauser S.... Besch D.	2003	BBS2, MKKS, BBS1
31	Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. (14520415)	Ansley S.J.... Katsanis N.	2003	PCM1, BBS4, TTC8
32	Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (12677556)	Beales P.L.... Katsanis N.	2003	BBS4, BBS2, MKKS
33	Evaluation of complex inheritance involving the most common Bardet- Biedl syndrome locus (BBS1). (12524598)	Mykytyn K.... Sheffield V.C.	2003	BBS1
34	Bardet-Biedl syndrome and Usher syndrome. (12876834)	Koenig R.	2003	CDH23, USH1C, PCDH15
35	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (12567324)	Badano J.L.... Katsanis N.	2003	BBS2, BBS1, BBS7
36	A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome. (11991710)	Dose A.C.... Burnside B.	2002	MYO3B
37	The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (12365916)	Riise R.... Sheffield V.C.	2002	BBS4
38	Positional cloning of a novel gene on chromosome 16q causing Bardet- Biedl syndrome (BBS2). (11285252)	Nishimura D.Y.... Sheffield V.C.	2001	BBS2
39	Mutations in MKKS cause Bardet-Biedl syndrome. (10973238)	Slavotinek A.M.... Biesecker L.G.	2000	MKKS
40	Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. (10973251)	Katsanis N.... Lupski J.R.	2000	MKKS
41	A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. (10577922)	Young T.L.... Davidson W.S.	1999	BBS1
42	Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. (9888993)	Woods M.O.... Davidson W.S.	1999	BBS5
43	Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). (10564830)	Haider N.B.... Sheffield V.C.	1999	EHD1
44	A fifth locus for Bardet-Biedl syndrome maps to chrom osome 2q31. (10053027)	Young T.L.... Davidson W.S.	1999	BBS5
45	A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus (10063326)	Iannello S.... Belfiore F.	1998	INS
46	Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome. (9782090)	Hoang E.H.... Burnside B.	1998	KIFC3
47	Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. (9126487)	Bruford E.A.... Wright A.F.	1997	BBS4
48	Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. (7987310)	Sheffield V.C.... Stone E.M.	1994	ARL6
49	Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. (8298649)	Kwitek-Black A.E.... Sheffield V.C.	1993	BBS2
50	Bardet-Biedl Syndrome (20301537)	Waters A.M.... Beales P.L.	1993	TRIM32, BBS4, ARL6

Genes related to bardet-biedl syndrome according to GeneCards:

(show top 50)    (show all 78)

id	Symbol	Description	Score	GeneCards Section Context
1	BBS10	Bardet-Biedl syndrome 10	11.2	Transcripts, Summaries, Publications, Aliases & Descriptions (show all 5 sections) Orthologs
2	BBS2	Bardet-Biedl syndrome 2	11.1	Aliases & Descriptions, Orthologs, Summaries, Transcripts (show all 7 sections) Publications, Domains & Families, Proteins
3	BBS7	Bardet-Biedl syndrome 7	11.1	Aliases & Descriptions, Summaries, Transcripts, Orthologs (show all 7 sections) Publications, Domains & Families, Proteins
4	BBS4	Bardet-Biedl syndrome 4	11.1	Transcripts, Summaries, Aliases & Descriptions, Proteins (show all 6 sections) Orthologs, Publications
5	BBS1	Bardet-Biedl syndrome 1	11.1	Publications, Transcripts, Aliases & Descriptions, Proteins (show all 6 sections) Orthologs, Summaries
6	MKKS	McKusick-Kaufman syndrome	11.1	Publications, Aliases & Descriptions, Proteins, Summaries
7	TTC8	tetratricopeptide repeat domain 8	11.1	Summaries, Orthologs, Aliases & Descriptions, Publications
8	BBS12	Bardet-Biedl syndrome 12	11.1	Transcripts, Publications, Aliases & Descriptions, Summaries (show all 6 sections) Orthologs, Proteins
9	BBS5	Bardet-Biedl syndrome 5	11.1	Transcripts, Summaries, Orthologs, Proteins (show all 6 sections) Aliases & Descriptions, Publications
10	WDPCP	WD repeat containing planar cell polarity effector	11.1	Publications, Aliases & Descriptions, Summaries
11	ARL6	ADP-ribosylation factor-like 6	11.1	Publications, Orthologs, Aliases & Descriptions
12	BBS9	Bardet-Biedl syndrome 9	11.1	Orthologs, Aliases & Descriptions, Publications, Transcripts
13	CCDC28B	coiled-coil domain containing 28B	11.1	Publications, Summaries
14	MKS1	Meckel syndrome, type 1	11.1	Summaries, Publications
15	CEP290	centrosomal protein 290kDa	11.1	Publications, Aliases & Descriptions
16	ARL4D	ADP-ribosylation factor-like 4D	11.1	Publications, Summaries
17	MYO9A	myosin IXA	11.1	Publications, Summaries
18	TMEM67	transmembrane protein 67	11.1	Publications
19	RCN2	reticulocalbin 2, EF-hand calcium binding domain	11.0	Summaries
20	ENSG00000256349		11.0	Orthologs, Proteins
21	ENSG00000251569		11.0	Proteins, Orthologs
22	LCA10	lung carcinoma-associated protein 10	11.0
23	TRIM32	tripartite motif containing 32	11.0	Publications
24	EHD1	EH-domain containing 1	11.0	Publications
25	INVS	inversin	11.0
26	PARK2	parkinson protein 2, E3 ubiquitin protein ligase (parkin)	11.0	Publications
27	USH1A	Usher syndrome 1A (autosomal recessive, severe)	11.0	Publications
28	ARL17A	ADP-ribosylation factor-like 17A	11.0	Publications
29	NXNL1	nucleoredoxin-like 1	11.0	Publications
30	ISLR	immunoglobulin superfamily containing leucine-rich repeat	11.0	Disorders
31	BBIP1	BBSome interacting protein 1	11.0	Publications
32	LZTFL1	leucine zipper transcription factor-like 1	11.0	Disorders
33	RABL5	RAB, member RAS oncogene family-like 5	11.0
34	OPN1SW	opsin 1 (cone pigments), short-wave-sensitive	11.0
35	PLLP	plasmolipin	11.0	Disorders, Publications
36	ISLR2	immunoglobulin superfamily containing leucine-rich repeat 2	11.0	Disorders
37	KIF7	kinesin family member 7	11.0
38	INPP5E	inositol polyphosphate-5-phosphatase, 72 kDa	11.0
39	TTC21B	tetratricopeptide repeat domain 21B	11.0
40	STOML3	stomatin (EPB72)-like 3	11.0
41	SSTR3	somatostatin receptor 3	11.0	Publications
42	ALDOB	aldolase B, fructose-bisphosphate	11.0	Publications
43	MCHR1	melanin-concentrating hormone receptor 1	11.0	Publications
44	FLOT1	flotillin 1	11.0	Publications
45	ARL13B	ADP-ribosylation factor-like 13B	11.0	Publications
46	IFT57	intraflagellar transport 57 homolog (Chlamydomonas)	11.0	Publications
47	USH1C	Usher syndrome 1C (autosomal recessive, severe)	11.0	Publications
48	KIFC3	kinesin family member C3	11.0	Publications
49	TTC26	tetratricopeptide repeat domain 26	11.0
50	IGDCC3	immunoglobulin superfamily, DCC subclass, member 3	11.0

Pathways related to bardet-biedl syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Loss of Nlp from mitotic centrosomes38	9.5	PCM1, SDCCAG8, CEP290, CEP70, ALMS1

Compounds related to bardet-biedl syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	lep (116-130) (mouse)42	9.6	LEPR, LEP
2	sibutramine32 9 9	11.2	LEP, INS, LSL
3	beta-hydroxybutyrate32	9.2	LEP, INS, LSL
4	acipimox32	9.0	LEP, INS, LSL
5	intralipid32	9.0	LEP, INS, LSL
6	nash32	8.7	LEP, LEPR, INS, KRT18, LSL
7	dehydroepiandrosterone sulfate32	8.5	LSL, INS, CGA, LEP
8	androstenedione32 18	9.5	LSL, INS, CGA, LEPR, LEP
9	olanzapine32 34 9 18 9	12.4	LEP, LEPR, INS, LSL

Cellular components related to bardet-biedl syndrome according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	cilium membrane	GO:060170	10.4	TTC8, TMEM67, ARL6, BBS9, BBS7, BBS5
2	BBSome	GO:034464	10.4	BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7
3	TCTN-B9D complex	GO:036038	10.3	CEP290, MKS1, TMEM67
4	motile cilium	GO:031514	10.3	MKKS, BBS4, BBS2, WDR19
5	cilium axoneme	GO:035085	10.0	TTC21B, RPGRIP1L, IFT88, INPP5E, ARL6, WDPCP
6	nonmotile primary cilium	GO:031513	9.9	SSTR3, MCHR1, BBS4, RAB8A, PCM1, WDR19
7	photoreceptor connecting cilium	GO:032391	9.9	IFT88, IFT57, CEP290, WDR19
8	primary cilium	GO:072372	9.9	TTC26, SMO, KIF3A
9	microtubule organizing center	GO:005815	9.7	KRT18, EXOC7, ALDOB, FLOT1, BBS9, PAX2
10	centriolar satellite	GO:034451	9.7	KRT18, EXOC7, ALDOB, FLOT1, BBS4, PAX2
11	stereocilium	GO:032420	9.5	PCDH15, USH1C, CDH23
12	cilium	GO:005929	9.5	NPHP4, RPGRIP1L, ALMS1, IFT88, INVS, BBS12
13	centriole	GO:005814	9.4	SDCCAG8, BBS4, IFT88, ALMS1
14	microtubule basal body	GO:005932	9.1	WDR19, NPHP4, TTC8, RPGRIP1L, TMEM67, RAB8A
15	centrosome	GO:005813	8.7	MKS1, ALMS1, TMEM67, RPGRIP1L, TTC8, DCTN1

Biological processes related to bardet-biedl syndrome according to GeneDecks:

(show all 24)

id	Name	GO ID	Score	Top Affiliating Genes
1	nonmotile primary cilium assembly	GO:035058	10.7	BBS1, BBS10, BBS4, MKKS
2	pigment granule aggregation in cell center	GO:051877	10.6	MKKS, BBS7, BBS4
3	negative regulation of appetite by leptin-mediated signaling pathway	GO:038108	10.6	MKKS, BBS4, BBS2
4	melanosome transport	GO:032402	10.6	ARL6, MKKS, BBS7, BBS5, BBS4, BBS2
5	regulation of cilium beat frequency involved in ciliary motility	GO:060296	10.6	MKKS, BBS4, BBS2
6	retina homeostasis	GO:001895	10.5	BBS1, BBS10, BBS4
7	striatum development	GO:021756	10.5	MKKS, BBS4, BBS2
8	brain morphogenesis	GO:048854	10.5	PAX2, BBS2, BBS4, MKKS
9	chaperone-mediated protein complex assembly	GO:051131	10.5	BBS10, BBS12, MKKS
10	sensory processing	GO:050893	10.4	BBS4, TTC8
11	convergent extension involved in gastrulation	GO:060027	10.4	BBS4, MKKS
12	heart looping	GO:001947	10.4	BBS4, BBS5, BBS7, MKKS, SMO
13	cilium morphogenesis	GO:060271	10.3	TMEM67, IFT88, MKS1, MKKS, CEP290, BBS7
14	fat cell differentiation	GO:045444	10.3	TRIM32, ALMS1, ARL6, MKKS, BBS9, BBS7
15	determination of left/right symmetry	GO:007368	10.2	RPGRIP1L, IFT88, ARL13B, ARL6, MKKS, BBS7
16	flagellum assembly	GO:009296	10.1	BBS5, MKKS
17	equilibrioception	GO:050957	9.7	PCDH15, USH1C, CDH23
18	G2/M transition of mitotic cell cycle	GO:000086	9.4	DCTN1, ALMS1, CEP70, CEP290, SDCCAG8, USH1C
19	cilium assembly	GO:042384	9.4	KIF3A, TTC8, TTC26, RPGRIP1L, TMEM67, ALMS1
20	sensory perception of light stimulus	GO:050953	9.3	CDH23, USH2A, USH1C, PCDH15
21	photoreceptor cell maintenance	GO:045494	9.2	MKKS, CDH23, BBS4, BBS2, BBS10, BBS1
22	visual perception	GO:007601	9.2	EPAS1, OPN1SW, ARL6, BBS9, BBS5, PAX2
23	response to stimulus	GO:050896	8.9	CDH23, BBS9, BBS7, BBS5, BBS10, BBS1
24	sensory perception of sound	GO:007605	8.6	ALMS1, CDH23, USH2A, USH1C, PCDH15

Molecular functions related to bardet-biedl syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	3.6	EPAS1, TRAF3IP1, EXOC7, ALDOB, IFT57, INVS