Joubert Syndrome malady

NIH Rare Diseases: Joubert syndrome is a disorder that affects many parts of the body.  The signs and symptoms vary among affected individuals, even among members of the same family.  The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI).  Most infants with Joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  Individuals with Joubert syndrome can have delayed development and mild to severe intellectual disabilities.   Distinctive facial features are also characteristic of Joubert syndrome.  Mutations in one of 10 known genes have been found in about half of all cases with Joubert syndrome and related disorders.  In the remaining cases, the genetic cause is unknown.  This condition typically has an autosomal recessive pattern of inheritance.  Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern.³⁰

MalaCards: Joubert Syndrome, also known as cerebellooculorenal syndrome 1, is related to joubert syndrome and related disorders and was-related disorders. An important gene associated with Joubert Syndrome is INPP5E (inositol polyphosphate-5-phosphatase, 72 kDa), and among its related pathways are Loss of Nlp from mitotic centrosomes and Hedgehog signaling pathway. Affiliated tissues include brain, liver and kidney, and related mouse phenotypes are pigmentation and taste/olfaction.

NINDS: Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the ³¹

Genetics Home Reference: Joubert 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: Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that...⁴⁴ more...

OMIM: 213300

joubert syndrome 7 44 30 17 31 cerebellooculorenal syndrome 1 30 17 familial aplasia of the vermis 17 43 joubert syndrome 1 30 33 cerebelloparenchymal disorder 4 30 cerebello-oculo-renal syndrome 17 agenesis of cerebellar vermis 17 joubert-boltshauser syndrome 30

cerebellar vermis agenesis 30 joubert syndrome-1 33 aplasia, nos 43 jbts1 30 cors1 30 jbts 17 cors 17 cpd4 30

Disease types for joubert syndrome family:

joubert syndrome 2	joubert syndrome 7

Diseases related to joubert syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 177)

id	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome and related disorders	32.8	NPHP1, AHI1, RPGRIP1L, TMEM237, TMEM67, CC2D2A
2	was-related disorders	32.4	NPHP1, AHI1, RPGRIP1L, TMEM237, TMEM67, CC2D2A
3	joubert syndrome with oculorenal anomalies	32.0	LCA10, CEP290
4	coach syndrome	31.7	RPGRIP1L, TMEM67, CC2D2A
5	congenital hepatic fibrosis	28.1	PKHD1, RPGRIP1L, TMEM67, CC2D2A
6	nephronophthisis	27.9	NPHP4, CEP290, NPHP1, TTC21B, AHI1, PKHD1
7	polycystic kidney disease	27.4	NPHP1, PKHD1, OFD1, TMEM67, INVS
8	hypertension	26.6	TTC21B, PKHD1, TMEM67, MKS1, MKKS, CEP290
9	meckel syndrome	26.5	LCA10, BBS7, BBS1, CEP290, MKKS, MKS1
10	senior-loken syndrome	25.3	TTC21B, AHI1, RPGRIP1L, TMEM67, TMEM216, CC2D2A
11	fibrosis	25.1	WNT1, NPHP4, NPHP1, TTC21B, PKHD1, RPGRIP1L
12	obesity	25.0	TTC21B, RPGRIP1L, TMEM67, INPP5E, MKS1, MKKS
13	hepatitis	23.7	WNT1, NPHP4, NPHP1, TCTN2, TTC21B, SHH
14	retinitis	21.0	EN1, INVS, INPP5E, ARL13B, MKKS, ATF4
15	meckel syndrome type 4	13.5	CEP290, LCA10
16	leber congenital amaurosis 10	13.5	CEP290, LCA10
17	senior-loken syndrome 6	13.5	CEP290, LCA10
18	cep290-related bardet-biedl syndrome	13.5	TMEM67, CEP290, LCA10
19	orofaciodigital syndrome	13.3	CEP290, OFD1
20	multicystic renal dysplasia, bilateral	13.3	TMEM67, TMEM216, MKS1, CEP290
21	nephronophthisis 4	13.3	NPHP4, NPHP1
22	familial juvenile hyperuricemic nephropathy	13.1	NPHP4, NPHP1, OFD1
23	nephronophthisis 1	13.1	NPHP4, NPHP1, AHI1, INVS
24	cerebellar hypoplasia	13.0	WNT1, RPGRIP1L, TMEM67, CC2D2A, EN2, EN1
25	laurence-moon syndrome	12.9	MKKS, RPGRIP1
26	renal-hepatic-pancreatic dysplasia	12.9	INVS, PKHD1
27	intellectual disability	12.9	NPHP1, AHI1, OFD1, CC2D2A, CEP290, BBS1
28	encephaloceles	12.8	MKS1, CC2D2A, TMEM216, TMEM67, RPGRIP1L, TCTN2
29	encephalocele	12.8	TCTN2, CEP290, MKS1, CC2D2A, TMEM216, TMEM67
30	acrocallosal syndrome	12.8	GLI3, BBS7, KIF7
31	situs inversus	12.8	NPHP4, NPHP1, INVS
32	tetralogy of fallot	12.7	BBS1, BBS7, MKKS
33	mckusick-kaufman syndrome	12.6	GLI3, MKKS, BBS7, BBS1
34	cystic kidney	12.5	INVS, PKHD1, NPHP1, NPHP4
35	retinal disease	12.4	RPGRIP1, MKKS, CEP290, BBS7, BBS1
36	pallister-hall syndrome	12.4	SHH, GLI3, MKKS, KIF7
37	rhyns syndrome	12.4	NPHP4, NPHP1, RPGRIP1, CEP290, LCA5
38	syndactyly	12.4	SHH, OFD1, GLI3, KIF7
39	pigmentary retinopathy	12.2	TTC21B, TMEM67, MKS1, MKKS, CEP290, BBS7
40	leber congenital amaurosis	12.1	NPHP4, RPGRIP1, RPGRIP1L, TMEM67, CEP290, LCA5
41	tracheoesophageal fistula	12.1	GLI3, SHH
42	coloboma	12.0	NPHP1, SHH, RPGRIP1, RPGRIP1L, TMEM67, CC2D2A
43	cerebellar ataxia	11.9	OFD1, TMEM67, TMEM216, CC2D2A, INPP5E, ARL13B
44	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	11.8	INPP5E, ARL13B, CEP290, KIF7, CC2D2A, TMEM216
45	oculomotor apraxia	11.8	NPHP1, TCTN2, TCTN1, TTC21B, AHI1, RPGRIP1L
46	hypotonia	11.8	NPHP1, TCTN2, TCTN1, TTC21B, AHI1, RPGRIP1L
47	fundus dystrophy	11.7	TMEM67, CC2D2A, INPP5E, ARL13B, MKKS, CEP290
48	ataxia	11.7	RPGRIP1L, AHI1, TTC21B, TCTN1, TCTN2, NPHP1
49	medulloblastoma	11.7	WNT1, SHH, GLI3, EN2, EN1, BARHL1
50	asphyxiating thoracic dystrophy	11.6	NPHP4, NPHP1, TTC21B, AHI1, RPGRIP1L, OFD1

Clinical features from OMIM: 213300

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to joubert syndrome:

²²

MGI Mouse Phenotypes related to joubert syndrome:

²⁵ (show all 17)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.9	LCA5, CEP290, EN1, GLI3, NPHP4
2	taste/olfaction phenotype	MP:0005394	8.6	BBS1, MKKS, GLI3, SHH
3	hearing/vestibular/ear phenotype	MP:0005377	8.2	BARHL1, BBS1, MKS1, GLI3, SHH, WNT1
4	skeleton phenotype	MP:0005390	7.6	WNT1, TTC21B, SHH, ZIC1, KIF7, MKS1
5	respiratory system phenotype	MP:0005388	7.5	SHH, WNT1, PKHD1, RPGRIP1L, OFD1, GLI3
6	craniofacial phenotype	MP:0005382	7.2	INPP5E, BBS1, BBS7, MKKS, MKS1, GLI3
7	renal/urinary system phenotype	MP:0005367	7.2	GLI3, INPP5E, MKS1, INVS, TMEM67, OFD1
8	limbs/digits/tail phenotype	MP:0005371	7.1	TTC21B, SHH, OFD1, GLI3, TCTN1, EN1
9	digestive/alimentary phenotype	MP:0005381	7.0	EN2, OFD1, PKHD1, SHH, INVS, INPP5E
10	embryogenesis phenotype	MP:0005380	6.6	ARL13B, TMEM67, MKS1, CEP41, BBS7, KIF7
11	reproductive system phenotype	MP:0005389	6.6	BBS1, NPHP4, EN1, MKS1, MKKS, ATF4
12	cardiovascular system phenotype	MP:0005385	6.4	OFD1, RPGRIP1L, PKHD1, SHH, TCTN2, NPHP4
13	cellular phenotype	MP:0005384	6.2	WNT1, MKS1, ATF4, KIF7, EN1, CC2D2A
14	vision/eye phenotype	MP:0005391	6.0	ATF4, KIF7, NPHP4, NPHP1, TCTN2, AHI1
15	growth/size phenotype	MP:0005378	5.9	ZIC1, TMEM67, OFD1, ARL13B, PKHD1, SHH
16	mortality/aging	MP:0010768	5.3	BBS7, KIF7, ZIC1, BBS1, CEP41, EN1
17	nervous system phenotype	MP:0003631	3.8	WNT1, ARL13B, MKS1, MKKS, CEP41, CEP290

Articles related to joubert syndrome:

(show all 48)

id	Title	Authors	Year	Affiliating Genes
1	CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (22246503)	Lee J.E.... Gleeson J.G.	2012	CC2D2A, CEP41, TTLL6
2	Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (22425360)	Srour M.... Michaud J.L.	2012	AHI1, CEP290, TTC21B
3	TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. (22152675)	Huang L.... Boycott K.M.	2011	MKKS, TMEM237
4	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. (21633164)	Dafinger C.... Bolz H.J.	2011	SHH, NPHP1, TMEM67
5	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) caus e COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (19574260)	Doherty D.... Glass I.A.	2010	TMEM67, RPGRIP1L, CC2D2A
6	Joubert syndrome Arl13b functions at ciliary membrane s and stabilizes protein transport in Caenorhabditis elegans. (20231383)	Cevik S.... Blacque O.E.	2010	ARL13B
7	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is assoc iated with a TMEM216 mutation. (20036350)	Edvardson S.... Elpeleg O.	2010	TMEM216
8	CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype- phenotype correlation. (19777577)	Mougou-Zerelli S.... Attie-Bitach T.	2009	CC2D2A
9	OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5- encoded lebercilin. (19800048)	Coene K.L.... de Brouwer A.P.	2009	OFD1, LCA5
10	Joubert syndrome: insights into brain development, ci lium biology, and complex disease. (19778711)	Doherty D.	2009	NPHP1, AHI1
11	MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. (19058225)	Brancati F.... Valente E.M.	2009	TMEM67
12	MKS3-related ciliopathy with features of autosomal re cessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. (19540516)	Gunay-Aygun M.... Gahl W.A.	2009	TMEM67, PKHD1
13	Clinical and molecular features of Joubert syndrome a nd related disorders. (19876931)	Parisi M.A.	2009	TMEM67
14	Association of common variants in the Joubert syndrome gene (AHI1) with autism. (18782849)	Alvarez Retuerto A.I.... Geschwind D.H.	2008	AHI1
15	Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. (18674751)	Cantagrel V.... Gleeson J.G.	2008	ARL13B
16	DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. (18054307)	Kroes H.Y.... Sinke R.J.	2008	NPHP1, AHI1
17	Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. (18785627)	Doering J.E.... Ferland R.J.	2008	AHI1
18	CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (18950740)	Gorden N.T.... Doherty D.	2008	CEP290, CC2D2A
19	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (18565097)	Brancati F.... Valente E.	2008	RPGRIP1L
20	Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. (17216245)	Assadi F.	2007	INVS
21	Joubert syndrome (and related disorders) (OMIM 213300). (17377524)	Parisi M.A.... Glass I.A.	2007	NPHP1, AHI1
22	Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. (17617513)	Helou J.... Hildebrandt F.	2007	CEP290
23	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. (17558407)	Arts H.H.... Roepman R.	2007	RPGRIP1, NPHP4, RPGRIP1L
24	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (17160906)	Baala L.... Attie-Bitach T.	2007	NPHP1, AHI1, MKS1
25	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (17558409)	Delous M.... Saunier S.	2007	RPGRIP1L
26	High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. (17409309)	Tory K.... Saunier S.	2007	NPHP1, AHI1, CEP290
27	CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. (17564967)	Brancati F.... Gleeson J.G.	2007	CEP290
28	Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. (17960139)	Wolf M.T.... Hildebrandt F.	2007	NPHP1, AHI1, TMEM67
29	Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (16240161)	Utsch B.... Hildebrandt F.	2006	AHI1
30	Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (16682970)	Valente E.M.... Gleeson J.G.	2006	CEP290
31	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. (16155189)	Parisi M.A.... Glass I.A.	2006	NPHP1, AHI1
32	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (16453322)	Valente E.M.... Gleeson J.G.	2006	AHI1
33	The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (16682973)	Sayer J.A.... Hildebrandt F.	2006	ATF4, CEP290
34	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. (15786477)	Valente E.M.... Gleeson J.G.	2005	NPHP1
35	Genetic basis of Joubert syndrome and related disorders of cerebellar development. (16244321)	Louie C.M.... Gleeson J.G.	2005	NPHP1, AHI1
36	NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. (15689444)	Castori M.... Bertini E.	2005	NPHP1
37	Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (15487006)	Gould D.B.... Walter M.A.	2004	BARHL1
38	Homozygosity mapping of a third Joubert syndrome locus to 6q23. (15060101)	Lagier-Tourenne C.... Koenig M.	2004	AHI1
39	Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. (14981711)	Bennett C.L.... Glass I.A.	2004	ZIC1
40	Joubert syndrome co-existing with partial Xp trisomy: review of the literature. (15517825)	Guven G.S.... Hacihanefioglu S.	2004	EN1
41	Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. (15322546)	Ferland R.J.... Walsh C.A.	2004	AHI1
42	Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. (15467982)	Dixon-Salazar T.... Gleeson J.G.	2004	NPHP1, AHI1
43	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. (15138899)	Parisi M.A.... Glass I.A.	2004	NPHP1
44	Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. (12917796)	Keeler L.C.... Gleeson J.G.	2003	TMEM216
45	Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. (11807898)	Blair I.P.... Chance P.F.	2002	EN2, EN1
46	Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. (10577920)	Saar K.... Bayoumi R.	1999	INPP5E
47	Clinical and molecular analysis in Joubert syndrome. (9295076)	Pellegrino J.E.... Chance P.F.	1997	WNT1
48	Joubert Syndrome (20301500)	Parisi M.... Glass I.	1993	GLI3, OFD1, NPHP1

Genes related to joubert syndrome according to GeneCards:

(show all 38)

id	Symbol	Description	Score	GeneCards Section Context
1	INPP5E	inositol polyphosphate-5-phosphatase, 72 kDa	11.1	Publications, Aliases & Descriptions, Summaries
2	AHI1	Abelson helper integration site 1	11.1	Summaries, Publications
3	TMEM67	transmembrane protein 67	11.1	Summaries, Publications
4	NPHP1	nephronophthisis 1 (juvenile)	11.1	Summaries, Publications
5	RPGRIP1L	RPGRIP1-like	11.1	Summaries, Publications
6	CEP290	centrosomal protein 290kDa	11.1	Summaries, Publications
7	CC2D2A	coiled-coil and C2 domain containing 2A	11.1	Summaries, Publications
8	WNT1	wingless-type MMTV integration site family, member 1	11.1	Publications, Summaries
9	TMEM216	transmembrane protein 216	11.1	Summaries, Publications
10	TMEM237	transmembrane protein 237	11.1	Summaries, Publications
11	ARL13B	ADP-ribosylation factor-like 13B	11.1	Publications, Summaries
12	CEP41	centrosomal protein 41kDa	11.1	Publications, Summaries
13	BTS1	bladder tumor susceptibility 1	11.0
14	TMEM138	transmembrane protein 138	11.0	Summaries, Disorders, Publications
15	C5orf42	chromosome 5 open reading frame 42	11.0	Disorders, Publications, Summaries
16	LCA10	lung carcinoma-associated protein 10	11.0
17	OFD1	oral-facial-digital syndrome 1	11.0	Publications
18	MKKS	McKusick-Kaufman syndrome	11.0	Publications
19	INVS	inversin	11.0	Publications
20	EN1	engrailed homeobox 1	11.0	Publications
21	KIF7	kinesin family member 7	11.0	Publications
22	TCTN1	tectonic family member 1	11.0	Publications
23	BARHL1	BarH-like homeobox 1	11.0	Publications
24	MKS1	Meckel syndrome, type 1	11.0	Publications
25	ZIC1	Zic family member 1	11.0	Publications
26	TTC21B	tetratricopeptide repeat domain 21B	11.0	Publications
27	TCTN2	tectonic family member 2	11.0	Publications
28	EN2	engrailed homeobox 2	11.0	Publications
29	LCA5	Leber congenital amaurosis 5	11.0	Publications
30	BBS7	Bardet-Biedl syndrome 7	11.0
31	BBS1	Bardet-Biedl syndrome 1	11.0
32	ATF4	activating transcription factor 4 (tax-responsive enhancer element B67)	11.0	Publications
33	NPHP4	nephronophthisis 4	11.0	Publications
34	RPGRIP1	retinitis pigmentosa GTPase regulator interacting protein 1	11.0	Publications
35	SHH	sonic hedgehog	11.0	Publications
36	PKHD1	polycystic kidney and hepatic disease 1 (autosomal recessive)	11.0	Publications
37	TTLL6	tubulin tyrosine ligase-like family, member 6	-8.8	Publications
38	GLI3	GLI family zinc finger 3	-10.0	Publications

Pathways related to joubert syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Loss of Nlp from mitotic centrosomes38	9.9	CEP290, CEP41, OFD1
2	Hedgehog signaling pathway20	9.3	GLI3, SHH, WNT1
3	Basal cell carcinoma20	9.0	GLI3, SHH, WNT1

Cellular components related to joubert syndrome according to GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	ciliary transition zone	GO:035869	10.1	CC2D2A, TMEM237
2	centriole	GO:005814	10.1	CEP41, OFD1, AHI1
3	cilium membrane	GO:060170	9.8	BBS7, TMEM67, BBS1
4	cell-cell junction	GO:005911	9.8	NPHP4, NPHP1, AHI1, RPGRIP1L
5	cilium axoneme	GO:035085	9.8	TTC21B, NPHP1, RPGRIP1L, INPP5E, LCA5
6	primary cilium	GO:072372	9.8	AHI1, CEP41, PKHD1
7	BBSome	GO:034464	9.5	BBS1, BBS7
8	cilium basal body	GO:036064	9.5	TTLL6, CEP41
9	TCTN-B9D complex	GO:036038	9.4	TCTN1, AHI1, TMEM67, TMEM216, CC2D2A, MKS1
10	cilium	GO:005929	8.2	KIF7, INVS, GLI3, TMEM216, TMEM138, OFD1
11	centrosome	GO:005813	8.1	PKHD1, RPGRIP1L, TMEM67, OFD1, MKKS, CEP41
12	microtubule basal body	GO:005932	7.8	TMEM216, LCA5, CEP290, MKS1, CC2D2A, OFD1

Biological processes related to joubert syndrome according to GeneDecks:

(show all 26)

id	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell outer segment organization	GO:035845	10.5	NPHP1, AHI1
2	pigment granule aggregation in cell center	GO:051877	10.3	BBS7, MKKS
3	visual behavior	GO:007632	10.2	NPHP1, NPHP4
4	regulation of smoothened signaling pathway	GO:008589	10.2	TCTN1, RPGRIP1L, ZIC1
5	nonmotile primary cilium assembly	GO:035058	10.2	BBS1, MKKS
6	determination of left/right symmetry	GO:007368	10.1	BBS7, ARL13B, RPGRIP1L, MKKS
7	embryonic forelimb morphogenesis	GO:035115	10.0	RPGRIP1L, SHH, EN1
8	retina development in camera-type eye	GO:060041	9.9	NPHP1, CEP290, NPHP4
9	dorsal/ventral pattern formation	GO:009953	9.9	SHH, EN1, ARL13B
10	negative regulation of alpha-beta T cell differentiation	GO:046639	9.7	SHH, GLI3
11	hindgut morphogenesis	GO:007442	9.7	GLI3, SHH
12	protein polyglutamylation	GO:018095	9.7	TTLL6, CEP41
13	heart looping	GO:001947	9.7	AHI1, SHH, BBS7, MKKS
14	hindbrain development	GO:030902	9.6	EN1, CEP290, AHI1, SHH, EN2
15	branching involved in ureteric bud morphogenesis	GO:001658	9.5	SHH, GLI3, WNT1
16	positive regulation of protein import into nucleus	GO:042307	9.5	SHH, GLI3, ZIC1
17	artery development	GO:060840	9.5	SHH, GLI3
18	midbrain development	GO:030901	9.5	WNT1, SHH, EN2, EN1, BARHL1
19	dorsal/ventral neural tube patterning	GO:021904	9.4	SHH, TCTN1
20	smoothened signaling pathway	GO:007224	9.4	GLI3, SHH, TCTN2, CC2D2A
21	response to stimulus	GO:050896	9.4	BBS1, BBS7, RPGRIP1
22	positive regulation of alpha-beta T cell differentiation	GO:046638	9.3	SHH, GLI3
23	cilium morphogenesis	GO:060271	8.9	BBS7, CEP290, AHI1, OFD1, TMEM67, TMEM216
24	positive regulation of transcription, DNA-dependent	GO:045893	8.6	GLI3, SHH, WNT1, ATF4, CEP290, ZIC1
25	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.5	WNT1, AHI1, SHH, GLI3, EN2, EN1
26	cilium assembly	GO:042384	8.1	CEP41, BBS1, TCTN2, MKKS, MKS1, CEP290

Molecular functions related to joubert syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	3.8	KIF7, OFD1, RPGRIP1L, RPGRIP1, PKHD1, SHH