Joubert Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Joubert Syndrome 7

MalaCards integrated aliases for Joubert Syndrome 7:

Name: Joubert Syndrome 7 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Jbts7 ⁵⁶ ¹² ⁷³

Cerebello-Oculo-Renal Syndrome 3 ⁷³

Joubert Syndrome, Type 7 ³⁹

Cors3 ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
renal phenotype worsens with age
see also meckel syndrome type 5 , an allelic disorder with a more severe phenotype

HPO:

³¹

joubert syndrome 7:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases Eye diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111002

OMIM ⁵⁶ 611560

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ C566916 D002526 D005124 more

MedGen ⁴¹ C1969053

SNOMED-CT via HPO ⁶⁸ 111266001 11934000 193662007 more

UMLS ⁷¹ C1969053

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Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 7: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

MalaCards based summary : Joubert Syndrome 7, also known as jbts7, is related to ciliopathy and retinal aplasia, and has symptoms including ataxia An important gene associated with Joubert Syndrome 7 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are ptosis and nystagmus

Disease Ontology : ¹² A Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2.

More information from OMIM: 611560 PS213300

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Related Diseases for Joubert Syndrome 7

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35

Diseases related to Joubert Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)

#	Related Disease	Score	Top Affiliating Genes
1	ciliopathy	10.3	TMEM67 RPGRIP1L
2	retinal aplasia	10.3	NPHP1 CEP290
3	nephronophthisis 13	10.2	NPHP1 CEP290
4	nephronophthisis 16	10.2	NPHP1 CEP290
5	nephronophthisis 12	10.2	NPHP1 CEP290
6	bardet-biedl syndrome 10	10.2	TMEM216 NPHP1
7	coach syndrome	10.1	TMEM67 RPGRIP1L CC2D2A
8	joubert syndrome 21	10.1	NPHP1 ARL13B
9	joubert syndrome 13	10.1	TMEM67 TMEM216 CC2D2A
10	renal-hepatic-pancreatic dysplasia	10.1	NPHP1 CEP290
11	cone-rod dystrophy 13	10.1	RPGRIP1L RPGRIP1
12	arima syndrome	10.0	TMEM216 CEP290 CC2D2A
13	retinal ciliopathy	10.0	RPGRIP1 CEP290
14	bardet-biedl syndrome 13	10.0	MKS1 CEP290
15	oculomotor apraxia	10.0	NPHP1 AHI1
16	simpson-golabi-behmel syndrome, type 2	10.0	RPGRIP1 CEP290
17	leber congenital amaurosis 1	10.0	RPGRIP1 CEP290
18	acrocallosal syndrome	10.0	TMEM216 RPGRIP1L AHI1
19	leber congenital amaurosis 10	10.0	RPGRIP1 CEP290
20	leber congenital amaurosis 3	9.9	RPGRIP1 CEP290
21	oligohydramnios	9.9	TMEM67 MKS1 CC2D2A
22	leber congenital amaurosis 4	9.9	RPGRIP1 CEP290
23	nephronophthisis 4	9.9	RPGRIP1 NPHP1
24	congenital hepatic fibrosis	9.9	TMEM67 RPGRIP1L CC2D2A AHI1
25	bardet-biedl syndrome 8	9.9	MKS1 CEP290
26	leber congenital amaurosis 2	9.8	RPGRIP1 CEP290
27	bardet-biedl syndrome 6	9.8	MKS1 CEP290
28	polycystic kidney disease 2 with or without polycystic liver disease	9.8	TMEM67 MKS1 ARL13B
29	cogan syndrome	9.8	NPHP1 CEP290 CC2D2A AHI1
30	physical disorder	9.7	MKS1 CEP290 ARL13B
31	leber congenital amaurosis 6	9.7	RPGRIP1 MKS1 CEP290
32	ellis-van creveld syndrome	9.7	TMEM216 RPGRIP1L CEP290 ARL13B
33	pathologic nystagmus	9.6	TMEM67 MKS1 CEP290 AHI1
34	bardet-biedl syndrome 3	9.6	MKS1 CEP290
35	nephronophthisis 19	9.6	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
36	meckel syndrome, type 7	9.5	TMEM216 B9D2 B9D1
37	retinal degeneration	9.4	TMEM67 RPGRIP1L RPGRIP1 NPHP1 CEP290
38	joubert syndrome 14	9.3	TMEM216 RPGRIP1L B9D2 B9D1
39	nephronophthisis 14	9.3	TMEM67 RPGRIP1L NPHP1 CEP290 CC2D2A B9D1
40	joubert syndrome 9	9.3	TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
41	nephronophthisis 7	9.3	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
42	bardet-biedl syndrome 14	9.2	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
43	short-rib thoracic dysplasia 1 with or without polydactyly	9.2	TMEM67 RPGRIP1L NPHP1 CC2D2A ARL13B AHI1
44	apraxia	9.1	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
45	joubert syndrome 24	9.1	RPGRIP1L NPHP1 CEP290 B9D1 ARL13B AHI1
46	nephronophthisis 11	9.0	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
47	joubert syndrome 10	9.0	TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A ARL13B
48	nephronophthisis 1	8.9	NPHP1 MKS1 B9D2 B9D1 AHI1
49	orofaciodigital syndrome	8.8	TMEM67 TMEM216 NPHP1 MKS1 CEP290 CC2D2A
50	encephalocele	8.8	TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1

Graphical network of the top 20 diseases related to Joubert Syndrome 7:

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Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

³¹ (show all 20)

#	Description	HPO Source Accession
1	ptosis ³¹	HP:0000508
2	nystagmus ³¹	HP:0000639
3	intellectual disability ³¹	HP:0001249
4	ataxia ³¹	HP:0001251
5	scoliosis ³¹	HP:0002650
6	global developmental delay ³¹	HP:0001263
7	renal cyst ³¹	HP:0000107
8	hypoplasia of the brainstem ³¹	HP:0002365
9	central apnea ³¹	HP:0002871
10	generalized hypotonia ³¹	HP:0001290
11	episodic tachypnea ³¹	HP:0002876
12	nephronophthisis ³¹	HP:0000090
13	postaxial hand polydactyly ³¹	HP:0001162
14	encephalocele ³¹	HP:0002084
15	oculomotor apraxia ³¹	HP:0000657
16	retinal dystrophy ³¹	HP:0000556
17	molar tooth sign on mri ³¹	HP:0002419
18	abnormal corpus callosum morphology ³¹	HP:0001273
19	brainstem dysplasia ³¹	HP:0002508
20	neonatal breathing dysregulation ³¹	HP:0002790

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
ptosis
nystagmus
oculomotor apraxia
abnormal eye movements
retinal dystrophy (less common)

Skeletal Spine:
scoliosis

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

Neurologic Central Nervous System:
ataxia
hypoplasia of the brainstem
encephalocele
hypotonia
mental retardation
more

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM:

611560

UMLS symptoms related to Joubert Syndrome 7:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 7:

⁴⁵ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.21	AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
2	growth/size/body region	MP:0005378	10.09	AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
3	cardiovascular system	MP:0005385	10.07	B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
4	craniofacial	MP:0005382	10.04	B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
5	embryo	MP:0005380	10	ARL13B B9D1 B9D2 CC2D2A MKS1 RPGRIP1L
6	nervous system	MP:0003631	10	AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
7	mortality/aging	MP:0010768	9.97	AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
8	digestive/alimentary	MP:0005381	9.95	B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
9	limbs/digits/tail	MP:0005371	9.88	B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
10	liver/biliary system	MP:0005370	9.85	B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
11	renal/urinary system	MP:0005367	9.85	AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
12	respiratory system	MP:0005388	9.43	ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13	vision/eye	MP:0005391	9.28	AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1

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Drugs & Therapeutics for Joubert Syndrome 7

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 7

Cochrane evidence based reviews: joubert syndrome 7

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Genetic Tests for Joubert Syndrome 7

Genetic tests related to Joubert Syndrome 7:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 7 ²⁹	RPGRIP1L

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Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

⁴⁰

Eye, Brain

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Publications for Joubert Syndrome 7

Articles related to Joubert Syndrome 7:

#	Title	Authors	PMID	Year
1	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. ⁵⁶ ⁶	Brancati F...Valente EM	18565097	2008
2	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁵⁶ ⁶	Arts HH...Roepman R	17558407	2007
3	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. ⁵⁶ ⁶	Delous M...Saunier S	17558409	2007
4	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
5	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
6	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁶	Dafinger C...Bolz HJ	21633164	2011
7	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003

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Genes for Joubert Syndrome 7

Genes related to Joubert Syndrome 7 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPGRIP1L	RPGRIP1 Like	Protein Coding	1326.31	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18565097 20301500 17558409 (more) 17558407 21448235
2	TMEM67	Transmembrane Protein 67	Protein Coding	7.58	DISEASES inferred ¹⁵
3	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	7.52	DISEASES inferred ¹⁵
4	CEP290	Centrosomal Protein 290	Protein Coding	7.31	DISEASES inferred ¹⁵
5	NPHP1	Nephrocystin 1	Protein Coding	7.15	DISEASES inferred ¹⁵
6	TMEM216	Transmembrane Protein 216	Protein Coding	7.06	DISEASES inferred ¹⁵
7	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.03	DISEASES inferred ¹⁵
8	B9D1	B9 Domain Containing 1	Protein Coding	6.73	DISEASES inferred ¹⁵
9	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.71	DISEASES inferred ¹⁵
10	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	6.45	DISEASES inferred ¹⁵
11	B9D2	B9 Domain Containing 2	Protein Coding	6.39	DISEASES inferred ¹⁵
12	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.38	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

⁶ (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV	Pathogenic	1069	rs121918198	16:53686756-53686756	16:53652844-53652844
2	RPGRIP1L	NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV	Pathogenic	1070	rs121918199	16:53720364-53720364	16:53686452-53686452
3	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)	SNV	Pathogenic	1071	rs121918200	16:53686516-53686516	16:53652604-53652604
4	RPGRIP1L	RPGRIP1L, 1-BP DEL, 1721A	deletion	Pathogenic	1075
5	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV	Pathogenic	1076	rs121918204	16:53686549-53686549	16:53652637-53652637
6	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)	deletion	Pathogenic	1077	rs387906243	16:53682911-53682911	16:53648999-53648999
7	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV	Pathogenic	1079	rs145665129	16:53679807-53679807	16:53645895-53645895
8	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	SNV	Pathogenic	1080	rs267607020	16:53686624-53686624	16:53652712-53652712
9	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	duplication	Pathogenic	188192	rs778149316	16:53686890-53686890	16:53652978-53652978
10	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3701+1G>T	SNV	Pathogenic	217695	rs863225219	16:53644878-53644878	16:53610966-53610966
11	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	SNV	Pathogenic	217694	rs778533826	16:53653024-53653024	16:53619112-53619112
12	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-1G>A	SNV	Pathogenic	217690	rs863225215	16:53679916-53679916	16:53646004-53646004
13	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)	deletion	Pathogenic	217691	rs863225216	16:53686878-53686878	16:53652966-53652966
14	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+1G>A	SNV	Pathogenic	217693	rs863225218	16:53698781-53698781	16:53664869-53664869
15	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)	deletion	Pathogenic	217692	rs863225217	16:53698893-53698893	16:53664981-53664981
16	RPGRIP1L	NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	438669	rs1555616593	16:53730175-53730175	16:53696263-53696263
17	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs)	short repeat	Likely pathogenic	208609	rs797045104	16:53656262-53656263	16:53622350-53622351
18	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)	duplication	Likely pathogenic	212060	rs797045918	16:53698867-53698867	16:53664955-53664955
19	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	SNV	Likely pathogenic	635022	rs1567800920	16:53652959-53652959	16:53619047-53619047
20	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV	Conflicting interpretations of pathogenicity	1074	rs121918203	16:53679606-53679606	16:53645694-53645694
21	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)	SNV	Uncertain significance	193717	rs137982921	16:53698869-53698869	16:53664957-53664957
22	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)	SNV	Uncertain significance	235636	rs151332923	16:53639522-53639522	16:53605610-53605610
23	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)	SNV	Uncertain significance	289611	rs143863631	16:53686789-53686789	16:53652877-53652877
24	RPGRIP1L	NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)	SNV	Uncertain significance	319668	rs151212590	16:53726256-53726256	16:53692344-53692344
25	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)	SNV	Uncertain significance	406249	rs201131571	16:53686827-53686827	16:53652915-53652915
26	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)	SNV	Uncertain significance	423510	rs79524027	16:53690423-53690423	16:53656511-53656511
27	RPGRIP1L	NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	SNV	Uncertain significance	1068	rs121918197	16:53720424-53720424	16:53686512-53686512
28	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)	SNV	Uncertain significance	530904	rs367845452	16:53674971-53674971	16:53641059-53641059

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RPGRIP1L	p.Thr615Pro	VAR_039393	rs121918198
2	RPGRIP1L	p.Thr677Ile	VAR_039394	rs532768944
3	RPGRIP1L	p.Ala695Pro	VAR_039395	rs121918200
4	RPGRIP1L	p.Gln550Arg	VAR_069234	rs772900011
5	RPGRIP1L	p.Glu393Lys	VAR_076824	rs375776718
6	RPGRIP1L	p.Cys633Arg	VAR_076825	rs898062661

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Expression for Joubert Syndrome 7

Search GEO for disease gene expression data for Joubert Syndrome 7.

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Pathways for Joubert Syndrome 7

Pathways related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.64	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.09	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

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GO Terms for Joubert Syndrome 7

Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.21	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2	cytosol	GO:0005829	10.18	TMEM216 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
3	cytoskeleton	GO:0005856	10.02	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
4	centrosome	GO:0005813	9.95	TMEM67 RPGRIP1L MKS1 CEP290 B9D2 B9D1
5	MKS complex	GO:0036038	9.86	TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
6	ciliary basal body	GO:0036064	9.85	RPGRIP1L MKS1 CEP290 B9D2 B9D1 AHI1
7	ciliary transition zone	GO:0035869	9.81	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
8	photoreceptor connecting cilium	GO:0032391	9.73	RPGRIP1L RPGRIP1 NPHP1 CEP290
9	cell-cell junction	GO:0005911	9.71	RPGRIP1L NPHP1 AHI1
10	cilium	GO:0005929	9.7	TMEM67 TMEM216 RPGRIP1L RPGRIP1 NPHP1 MKS1
11	centriole	GO:0005814	9.67	MKS1 CEP290 AHI1
12	axoneme	GO:0005930	9.65	RPGRIP1L RPGRIP1 ARL13B
13	non-motile cilium	GO:0097730	9.63	RPGRIP1 ARL13B AHI1
14	cell projection	GO:0042995	9.4	TMEM67 TMEM216 RPGRIP1L RPGRIP1 NPHP1 MKS1

Biological processes related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.81	TMEM67 TMEM216 NPHP1 MKS1 CEP290 CC2D2A
2	determination of left/right symmetry	GO:0007368	9.67	RPGRIP1L MKS1 CC2D2A ARL13B
3	non-motile cilium assembly	GO:1905515	9.65	TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
4	ciliary basal body-plasma membrane docking	GO:0097711	9.65	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
5	smoothened signaling pathway	GO:0007224	9.62	MKS1 CC2D2A B9D1 ARL13B
6	camera-type eye development	GO:0043010	9.61	RPGRIP1L CC2D2A B9D1
7	regulation of smoothened signaling pathway	GO:0008589	9.55	RPGRIP1L MKS1
8	motile cilium assembly	GO:0044458	9.54	MKS1 CC2D2A
9	hindbrain development	GO:0030902	9.52	CEP290 AHI1
10	head development	GO:0060322	9.51	RPGRIP1L MKS1
11	eye photoreceptor cell development	GO:0042462	9.49	RPGRIP1 CEP290
12	left/right axis specification	GO:0070986	9.48	ARL13B AHI1
13	embryonic brain development	GO:1990403	9.46	MKS1 CC2D2A
14	neural tube patterning	GO:0021532	9.4	RPGRIP1L ARL13B
15	cilium assembly	GO:0060271	9.32	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A

Sources

Sources for Joubert Syndrome 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Joubert Syndrome 7 (JBTS7)

Aliases & Classifications for Joubert Syndrome 7

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