JBTS5
MCID: JBR012
MIFTS: 46

Joubert Syndrome 5 (JBTS5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 5

MalaCards integrated aliases for Joubert Syndrome 5:

Name: Joubert Syndrome 5 56 12 73 29 13 6 43 15 71
Jbts5 56 12 73
Joubert Syndrome, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
allelic to senior-loken syndrome 6 and leber congenital amaurosis type x


HPO:

31
joubert syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 5

UniProtKB/Swiss-Prot : 73 Joubert syndrome 5: 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. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.

MalaCards based summary : Joubert Syndrome 5, also known as jbts5, is related to arima syndrome and nephronophthisis 13, and has symptoms including ataxia An important gene associated with Joubert Syndrome 5 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and cerebellum, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A Joubert syndrome that has material basis in mutation in the CEP290 gene on chromosome 12q21.

More information from OMIM: 610188 PS213300

Related Diseases for Joubert Syndrome 5

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 Joubert Syndrome 36

Diseases related to Joubert Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 arima syndrome 32.0 TMEM216 CEP290 CC2D2A
2 nephronophthisis 13 10.2 NPHP1 CEP290
3 nephronophthisis 16 10.2 NPHP1 CEP290
4 nephronophthisis 12 10.2 NPHP1 CEP290
5 ciliopathy 10.1 TMEM67 RPGRIP1L
6 retinal aplasia 10.1 NPHP1 CEP290 C12orf29
7 bardet-biedl syndrome 10 10.1 TMEM216 NPHP1
8 oculomotor apraxia 10.1 NPHP1 AHI1
9 orofaciodigital syndrome i 10.1 OFD1 CEP290
10 coach syndrome 10.1 TMEM67 RPGRIP1L CC2D2A
11 simpson-golabi-behmel syndrome, type 2 10.1 OFD1 CEP290
12 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L AHI1
13 bardet-biedl syndrome 4 10.0 OFD1 CEP290
14 orofaciodigital syndrome iv 9.9 TMEM216 OFD1
15 leber congenital amaurosis 6 9.9 MKS1 CEP290
16 congenital hepatic fibrosis 9.8 TMEM67 RPGRIP1L CC2D2A AHI1
17 bardet-biedl syndrome 13 9.8 MKS1 CEP290
18 renal-hepatic-pancreatic dysplasia 9.8 OFD1 NPHP1 CEP290
19 cogan syndrome 9.8 NPHP1 CEP290 CC2D2A AHI1
20 retinal degeneration 9.8 TMEM67 RPGRIP1L NPHP1 CEP290
21 ellis-van creveld syndrome 9.7 TMEM216 RPGRIP1L OFD1
22 bardet-biedl syndrome 8 9.7 MKS1 CEP290
23 meckel syndrome, type 7 9.7 TMEM216 B9D2 B9D1
24 bardet-biedl syndrome 6 9.7 MKS1 CEP290
25 oligohydramnios 9.6 TMEM67 MKS1 CC2D2A
26 nephronophthisis 19 9.6 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
27 joubert syndrome 13 9.6 TMEM67 TMEM216 TCTN2 CC2D2A
28 bardet-biedl syndrome 3 9.6 MKS1 CEP290
29 joubert syndrome 9 9.6 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
30 joubert syndrome 14 9.5 TMEM216 RPGRIP1L B9D2 B9D1
31 pathologic nystagmus 9.5 TMEM67 MKS1 CEP290 AHI1
32 physical disorder 9.5 OFD1 MKS1 CEP290
33 polycystic kidney disease 2 with or without polycystic liver disease 9.4 TMEM67 MKS1
34 short-rib thoracic dysplasia 6 with or without polydactyly 9.4 TMEM67 TMEM216 TCTN2 OFD1
35 short-rib thoracic dysplasia 1 with or without polydactyly 9.1 TMEM67 RPGRIP1L OFD1 NPHP1 CC2D2A AHI1
36 joubert syndrome 24 9.1 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1 AHI1
37 nephronophthisis 7 9.0 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
38 nephronophthisis 1 9.0 NPHP1 MKS1 B9D2 B9D1 AHI1
39 nephronophthisis 14 8.9 TMEM67 TCTN2 RPGRIP1L NPHP1 CEP290 CC2D2A
40 bardet-biedl syndrome 14 8.8 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
41 encephalocele 8.8 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
42 nephronophthisis 11 8.7 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
43 apraxia 8.7 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CEP290
44 joubert syndrome 8 8.6 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
45 hydrolethalus syndrome 1 8.6 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
46 joubert syndrome 6 8.5 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
47 joubert syndrome 10 8.4 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
48 nephronophthisis 9 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
49 orofaciodigital syndrome 8.1 TMEM67 TMEM216 TCTN2 OFD1 NPHP1 MKS1
50 meckel syndrome, type 8 8.1 TMEM67 TMEM216 TCTN2 RPGRIP1L MKS1 CC2D2A

Graphical network of the top 20 diseases related to Joubert Syndrome 5:



Diseases related to Joubert Syndrome 5

Symptoms & Phenotypes for Joubert Syndrome 5

Human phenotypes related to Joubert Syndrome 5:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 muscular hypotonia 31 HP:0001252
5 rod-cone dystrophy 31 HP:0000510
6 central apnea 31 HP:0002871
7 generalized hypotonia 31 HP:0001290
8 episodic tachypnea 31 HP:0002876
9 agenesis of cerebellar vermis 31 HP:0002335
10 nephronophthisis 31 HP:0000090
11 oculomotor apraxia 31 HP:0000657
12 molar tooth sign on mri 31 HP:0002419
13 stage 5 chronic kidney disease 31 HP:0003774
14 congenital blindness 31 HP:0007875
15 renal cortical cysts 31 HP:0000803
16 impaired renal concentrating ability 31 HP:0004727
17 aplasia/hypoplasia of the cerebellar vermis 31 HP:0006817
18 retinal coloboma 31 HP:0000480
19 neonatal breathing dysregulation 31 HP:0002790
20 thickened superior cerebellar peduncle 31 HP:0002404

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
oculomotor apraxia
tapetoretinal degeneration
retinal coloboma
congenital amaurosis

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

Neurologic Central Nervous System:
ataxia
hypotonia
mental retardation
cerebellar vermis aplasia/hypoplasia
'molar tooth sign'
more
Genitourinary Kidneys:
nephronophthisis
cortical cysts
end stage renal disease
urine concentration defect

Clinical features from OMIM:

610188

UMLS symptoms related to Joubert Syndrome 5:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 5:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
2 cardiovascular system MP:0005385 10.16 B9D1 B9D2 CC2D2A CEP290 MKS1 OFD1
3 craniofacial MP:0005382 10.13 B9D1 B9D2 CC2D2A CEP290 MKS1 OFD1
4 growth/size/body region MP:0005378 10.1 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
5 digestive/alimentary MP:0005381 10.06 B9D1 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
6 embryo MP:0005380 10.03 B9D1 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
7 nervous system MP:0003631 10 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
8 limbs/digits/tail MP:0005371 9.97 B9D1 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
9 renal/urinary system MP:0005367 9.85 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
10 liver/biliary system MP:0005370 9.8 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
11 respiratory system MP:0005388 9.43 B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
12 vision/eye MP:0005391 9.28 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1

Drugs & Therapeutics for Joubert Syndrome 5

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 5

Cochrane evidence based reviews: joubert syndrome 5

Genetic Tests for Joubert Syndrome 5

Genetic tests related to Joubert Syndrome 5:

# Genetic test Affiliating Genes
1 Joubert Syndrome 5 29 CEP290

Anatomical Context for Joubert Syndrome 5

MalaCards organs/tissues related to Joubert Syndrome 5:

40
Kidney, Liver, Cerebellum, Pons, Eye

Publications for Joubert Syndrome 5

Articles related to Joubert Syndrome 5:

(show all 13)
# Title Authors PMID Year
1
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 56 6
16682970 2006
2
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 56 6
16682973 2006
3
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 56
26092869 2015
4
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
7
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 6
17564967 2007
8
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. 56
16240161 2006
9
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. 56
14981712 2004
10
Proteomic characterization of the human centrosome by protein correlation profiling. 56
14654843 2003
11
Joubert Syndrome 6
20301500 2003
12
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. 61
31346239 2019
13
Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity. 61
15832356 2005

Variations for Joubert Syndrome 5

ClinVar genetic disease variations for Joubert Syndrome 5:

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter)SNV Pathogenic 217633 rs863225187 12:88449374-88449374 12:88055597-88055597
2 CEP290 NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs)deletion Pathogenic 217621 rs771454167 12:88456549-88456549 12:88062772-88062772
3 CEP290 NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter)SNV Pathogenic 217640 rs779262951 12:88462362-88462362 12:88068585-88068585
4 CEP290 NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter)SNV Pathogenic 217637 rs371525247 12:88465150-88465150 12:88071373-88071373
5 CEP290 NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter)SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
6 CEP290 NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs)short repeat Pathogenic 217632 rs756302731 12:88476853-88476854 12:88083076-88083077
7 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
8 CEP290 NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter)SNV Pathogenic 217639 rs749439750 12:88478545-88478545 12:88084768-88084768
9 CEP290 NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs)short repeat Pathogenic 217628 rs780624853 12:88478612-88478615 12:88084835-88084838
10 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
11 CEP290 NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs)deletion Pathogenic 217625 rs863225182 12:88479869-88479869 12:88086092-88086092
12 CEP290 NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs)deletion Pathogenic 217638 rs863225189 12:88487671-88487671 12:88093894-88093894
13 CEP290 NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs)deletion Pathogenic 217629 rs863225184 12:88487680-88487680 12:88093903-88093903
14 CEP290 NM_025114.3(CEP290):c.2343T>C (p.Asn781=)SNV Pathogenic 217641 rs748034744 12:88505003-88505003 12:88111226-88111226
15 CEP290 NM_025114.3(CEP290):c.2112delA (p.Val705Leufs)deletion Pathogenic 217627 rs863225183 12:88505576-88505576 12:88111799-88111799
16 CEP290 NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs)deletion Pathogenic 217622 rs727503855 12:88512305-88512305 12:88118528-88118528
17 CEP290 NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs)duplication Pathogenic 217623 rs727503855 12:88512304-88512305 12:88118527-88118528
18 CEP290 NM_025114.3(CEP290):c.1623+1G>ASNV Pathogenic 217631 rs863225186 12:88512419-88512419 12:88118642-88118642
19 CEP290 NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter)SNV Pathogenic 217630 rs863225185 12:88524060-88524060 12:88130283-88130283
20 CEP290 NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs)deletion Pathogenic 217624 rs758550675 12:88534746-88534749 12:88140969-88140972
21 CEP290 NM_025114.3(CEP290):c.103-1G>TSNV Pathogenic 217634 rs863225188 12:88534811-88534811 12:88141034-88141034
22 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
23 CEP290 CEP290, 1-BP DEL, 4656Adeletion Pathogenic 1334
24 CEP290 NM_025114.3(CEP290):c.21G>T (p.Trp7Cys)SNV Pathogenic 1335 rs62635288 12:88535064-88535064 12:88141287-88141287
25 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
26 CEP290 NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
27 CEP290 NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter)SNV Pathogenic 1345 rs267606719 12:88471004-88471004 12:88077227-88077227
28 CEP290 NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs)short repeat Pathogenic 56729 rs386834148 12:88514913-88514914 12:88121136-88121137
29 CEP290 NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488
30 CEP290 NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs)deletion Pathogenic 56738 rs386834157 12:88530474-88530477 12:88136697-88136700
31 CEP290 NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs)duplication Pathogenic 99850 rs62640570 12:88487680-88487681 12:88093903-88093904
32 CEP290 NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs)deletion Pathogenic 166831 rs727503853 12:88471094-88471097 12:88077317-88077320
33 CEP290 NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter)SNV Pathogenic 156385 rs587783016 12:88482934-88482934 12:88089157-88089157
34 CEP290 NM_025114.3(CEP290):c.2317dup (p.Ser773Lysfs)duplication Pathogenic 438668 rs1555218898 12:88505028-88505029 12:88111251-88111252
35 CEP290 NM_025114.3(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
36 CEP290 NM_025114.3(CEP290):c.4159dup (p.Ser1387Lysfs)duplication Pathogenic 448961 rs1555208870 12:88481591-88481592 12:88087814-88087815
37 CEP290 NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
38 CEP290 NM_025114.3(CEP290):c.2251C>T (p.Arg751Ter)SNV Pathogenic 585307 rs753884599 12:88505095-88505095 12:88111318-88111318
39 CEP290 NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter)SNV Pathogenic/Likely pathogenic 523768 rs1170451277 12:88513984-88513984 12:88120207-88120207
40 CEP290 NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter)SNV Likely pathogenic 212730 rs797044604 12:88480227-88480227 12:88086450-88086450
41 CEP290 NM_025114.4(CEP290):c.6818_6818+1dupduplication Likely pathogenic 402224 rs1060499781 12:88452623-88452624 12:88058846-88058847
42 CEP290 NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter)SNV Likely pathogenic 635021 rs561598805 12:88465637-88465637 12:88071860-88071860
43 CEP290 NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)short repeat Likely pathogenic 635087 12:88477641-88477644 12:88083864-88083867
44 CEP290 NM_025114.3(CEP290):c.1606C>T (p.Gln536Ter)SNV Likely pathogenic 635030 rs1465414886 12:88512437-88512437 12:88118660-88118660
45 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)short repeat Likely pathogenic 804466 12:88523588-88523589 12:88129811-88129812
46 CEP290 NM_025114.3(CEP290):c.4437+1G>ASNV Conflicting interpretations of pathogenicity 285948 rs760915898 12:88479815-88479815 12:88086038-88086038
47 CEP290 NM_025114.3(CEP290):c.6645+1G>ASNV Conflicting interpretations of pathogenicity 290046 rs201218801 12:88453674-88453674 12:88059897-88059897
48 CEP290 NM_001009894.3(C12orf29):c.*807_*808CT[1]short repeat Conflicting interpretations of pathogenicity 372319 rs569673313 12:88443006-88443007 12:88049229-88049230
49 CEP290 NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys)SNV Conflicting interpretations of pathogenicity 195989 rs182369459 12:88496626-88496626 12:88102849-88102849
50 CEP290 NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn)SNV Uncertain significance 196713 rs201982308 12:88483178-88483178 12:88089401-88089401

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 5:

73
# Symbol AA change Variation ID SNP ID
1 CEP290 p.Trp7Cys VAR_028356 rs62635288
2 CEP290 p.Glu534Lys VAR_068168 rs895126773

Expression for Joubert Syndrome 5

Search GEO for disease gene expression data for Joubert Syndrome 5.

Pathways for Joubert Syndrome 5

GO Terms for Joubert Syndrome 5

Cellular components related to Joubert Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.23 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
2 cytosol GO:0005829 10.19 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3 cytoskeleton GO:0005856 10.1 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
4 cell projection GO:0042995 10.03 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
5 centrosome GO:0005813 10.01 TMEM67 RPGRIP1L OFD1 MKS1 CEP290 B9D2
6 ciliary basal body GO:0036064 9.91 RPGRIP1L OFD1 MKS1 CEP290 B9D2 B9D1
7 cilium GO:0005929 9.85 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
8 microtubule organizing center GO:0005815 9.81 RPGRIP1L OFD1 MKS1 CEP290
9 centriole GO:0005814 9.73 OFD1 MKS1 CEP290 AHI1
10 cell-cell junction GO:0005911 9.7 RPGRIP1L NPHP1 AHI1
11 photoreceptor connecting cilium GO:0032391 9.65 RPGRIP1L NPHP1 CEP290
12 MKS complex GO:0036038 9.61 TMEM67 TMEM216 TCTN2 MKS1 CEP290 CC2D2A
13 ciliary transition zone GO:0035869 9.28 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

Biological processes related to Joubert Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.9 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
2 cell projection organization GO:0030030 9.7 TMEM67 TMEM216 TCTN2 OFD1 NPHP1 MKS1
3 smoothened signaling pathway GO:0007224 9.62 TCTN2 MKS1 CC2D2A B9D1
4 determination of left/right symmetry GO:0007368 9.61 RPGRIP1L MKS1 CC2D2A
5 non-motile cilium assembly GO:1905515 9.56 TMEM216 RPGRIP1L MKS1 CC2D2A
6 camera-type eye development GO:0043010 9.54 RPGRIP1L CC2D2A B9D1
7 regulation of smoothened signaling pathway GO:0008589 9.52 RPGRIP1L MKS1
8 motile cilium assembly GO:0044458 9.51 MKS1 CC2D2A
9 hindbrain development GO:0030902 9.49 CEP290 AHI1
10 head development GO:0060322 9.48 RPGRIP1L MKS1
11 embryonic brain development GO:1990403 9.46 MKS1 CC2D2A
12 protein localization to ciliary transition zone GO:1904491 9.4 TCTN2 CC2D2A
13 ciliary basal body-plasma membrane docking GO:0097711 9.4 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1

Molecular functions related to Joubert Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 OFD1 B9D2

Sources for Joubert Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....