JBTS6
MCID: JBR015
MIFTS: 45

Joubert Syndrome 6 (JBTS6)

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

Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Name: Joubert Syndrome 6 56 12 73 29 13 6 43 15 71
Jbts6 56 12 73
Joubert Syndrome, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )


HPO:

31
joubert syndrome 6:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Joubert Syndrome 6

OMIM : 56 Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (610688)

MalaCards based summary : Joubert Syndrome 6, also known as jbts6, is related to ciliopathy and nephronophthisis 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 6 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, kidney and liver, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22.

UniProtKB/Swiss-Prot : 73 Joubert syndrome 6: 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.

Related Diseases for Joubert Syndrome 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 10.0 TMEM67 RPGRIP1L
2 nephronophthisis 1 10.0 NPHP1 AHI1
3 leber congenital amaurosis 6 9.9 MKS1 CEP290
4 joubert syndrome 15 9.9 RPGRIP1L NPHP1
5 retinal aplasia 9.9 NPHP1 CEP290
6 bardet-biedl syndrome 13 9.9 MKS1 CEP290
7 bardet-biedl syndrome 11 9.9 MKS1 CEP290
8 nephronophthisis 13 9.9 NPHP1 CEP290
9 bardet-biedl syndrome 8 9.9 MKS1 CEP290
10 cerebellar hypoplasia 9.9 TMEM67 RPGRIP1L CC2D2A
11 nephronophthisis 12 9.9 NPHP1 CEP290
12 polycystic kidney disease 2 with or without polycystic liver disease 9.8 TMEM67 MKS1
13 polydactyly 9.8 MKS1 CEP290 CC2D2A
14 renal-hepatic-pancreatic dysplasia 9.8 NPHP1 CEP290
15 oligohydramnios 9.8 TMEM67 MKS1 CC2D2A
16 meckel syndrome, type 7 9.8 TMEM216 CC2D2A
17 bardet-biedl syndrome 3 9.8 MKS1 CEP290
18 physical disorder 9.7 TMEM67 MKS1 CEP290
19 oculomotor apraxia 9.7 NPHP1 AHI1
20 bardet-biedl syndrome 1 9.7 TMEM216 NPHP1
21 bardet-biedl syndrome 6 9.7 RPGRIP1L MKS1 CEP290
22 alstrom syndrome 9.6 RPGRIP1L NPHP1 CEP290
23 asphyxiating thoracic dystrophy 9.6 RPGRIP1L CEP290
24 cogan syndrome 9.6 NPHP1 CEP290 AHI1
25 congenital hepatic fibrosis 9.5 TMEM67 RPGRIP1L CC2D2A AHI1
26 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 TMEM67 TMEM216
27 arima syndrome 9.5 TMEM216 CEP290 CC2D2A
28 encephalocele 9.5 TMEM67 MKS1 CEP290 CC2D2A
29 ellis-van creveld syndrome 9.5 TMEM216 RPGRIP1L CEP290
30 acrocallosal syndrome 9.4 TMEM216 RPGRIP1L AHI1
31 kidney disease 9.4 TMEM67 NPHP1 CEP290 AHI1
32 pathologic nystagmus 9.4 TMEM67 MKS1 CEP290 AHI1
33 retinal degeneration 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
34 meckel syndrome, type 8 9.3 TMEM67 TMEM216 RPGRIP1L CC2D2A
35 joubert syndrome 24 9.3 RPGRIP1L NPHP1 CEP290 AHI1
36 johanson-blizzard syndrome 9.2 TMEM216 RPGRIP1L CEP290 CC2D2A
37 nephronophthisis 19 9.0 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
38 nephronophthisis 16 9.0 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290
39 nephronophthisis 14 8.8 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
40 nephronophthisis 7 8.8 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
41 orofaciodigital syndrome 8.7 TMEM67 TMEM216 NPHP1 MKS1 CEP290
42 bardet-biedl syndrome 14 8.6 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
43 nephronophthisis 11 8.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
44 joubert syndrome 10 8.5 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A AHI1
45 apraxia 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 AHI1
46 cranioectodermal dysplasia 1 8.4 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
47 joubert syndrome 13 8.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
48 joubert syndrome 8 8.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
49 meckel syndrome, type 6 8.2 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
50 meckel syndrome, type 5 8.2 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

Graphical network of the top 20 diseases related to Joubert Syndrome 6:



Diseases related to Joubert Syndrome 6

Symptoms & Phenotypes for Joubert Syndrome 6

Human phenotypes related to Joubert Syndrome 6:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 muscular hypotonia 31 HP:0001252
4 blindness 31 HP:0000618
5 ataxia 31 HP:0001251
6 hepatic fibrosis 31 HP:0001395
7 chorioretinal coloboma 31 HP:0000567
8 nephronophthisis 31 HP:0000090
9 cerebellar vermis hypoplasia 31 HP:0001320
10 molar tooth sign on mri 31 HP:0002419
11 oculomotor apraxia 31 HP:0000657
12 retinal degeneration 31 HP:0000546
13 generalized hypotonia 31 HP:0001290
14 stage 5 chronic kidney disease 31 HP:0003774
15 breathing dysregulation 31 HP:0005957
16 elongated superior cerebellar peduncle 31 HP:0011933
17 bile duct proliferation 31 HP:0001408
18 enlarged fossa interpeduncularis 31 HP:0100951
19 thickened superior cerebellar peduncle 31 HP:0002404

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
blindness
chorioretinal coloboma
oculomotor apraxia
retinal degeneration
abnormal eye movements

Abdomen Liver:
hepatic fibrosis
bile duct proliferation

Respiratory:
breathing dysregulation

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
molar tooth sign on mri
hypotonia
developmental delay
more
Genitourinary Kidneys:
nephronophthisis
end-stage renal failure
microcysts

Clinical features from OMIM:

610688

UMLS symptoms related to Joubert Syndrome 6:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
2 craniofacial MP:0005382 9.72 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
3 nervous system MP:0003631 9.7 AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
4 limbs/digits/tail MP:0005371 9.56 CC2D2A MKS1 RPGRIP1L TMEM67
5 renal/urinary system MP:0005367 9.5 AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
6 vision/eye MP:0005391 9.1 AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L

Drugs & Therapeutics for Joubert Syndrome 6

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 6

Cochrane evidence based reviews: joubert syndrome 6

Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

# Genetic test Affiliating Genes
1 Joubert Syndrome 6 29 TMEM67

Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

40
Eye, Kidney, Liver

Publications for Joubert Syndrome 6

Articles related to Joubert Syndrome 6:

(show all 15)
# Title Authors PMID Year
1
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 61 56 6
17160906 2007
2
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 56 6
21633164 2011
3
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6 56
19508969 2009
4
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. 56 6
16541367 2006
5
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. 6
29891882 2018
6
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 56
26092869 2015
7
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
8
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
9
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 6
19574260 2010
10
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 6
19058225 2009
11
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 6
17377820 2007
12
Joubert Syndrome 6
20301500 2003
13
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? 6
9375913 1997
14
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 6
2929661 1989
15
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). 61
28726664 2017

Variations for Joubert Syndrome 6

ClinVar genetic disease variations for Joubert Syndrome 6:

6 (show top 50) (show all 117) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_001142301.1(TMEM67):c.2072_2079+4delinsGindel Pathogenic 1368 rs1554557920 8:94815905-94815916 8:93803677-93803688
2 TMEM67 NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)SNV Pathogenic 1371 rs137853107 8:94803510-94803510 8:93791282-93791282
3 TMEM67 NM_153704.6(TMEM67):c.2439+5G>CSNV Pathogenic 1372 8:94817111-94817111 8:93804883-93804883
4 TMEM67 NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)SNV Pathogenic 1374 rs267607114 8:94805484-94805484 8:93793256-93793256
5 TMEM67 NM_001142301.1(TMEM67):c.1718-2A>CSNV Pathogenic 1375 rs758948621 8:94809557-94809557 8:93797329-93797329
6 TMEM67 NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)SNV Pathogenic 1376 rs137853108 8:94777845-94777845 8:93765617-93765617
7 TMEM67 NM_001142301.1(TMEM67):c.2313+1G>TSNV Pathogenic 1379 rs786200867 8:94821185-94821185 8:93808957-93808957
8 TMEM67 NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)SNV Pathogenic 1381 rs267607115 8:94807731-94807731 8:93795503-93795503
9 TMEM67 NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)SNV Pathogenic 1382 rs267607116 8:94821089-94821089 8:93808861-93808861
10 TMEM67 NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)SNV Pathogenic 1385 rs267607116 8:94821089-94821089 8:93808861-93808861
11 TMEM67 NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)SNV Pathogenic 1386 rs267607118 8:94767272-94767272 8:93755044-93755044
12 TMEM67 NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)SNV Pathogenic 1387 rs202149403 8:94792861-94792861 8:93780633-93780633
13 TMEM67 TMEM67, PRO358LEUundetermined variant Pathogenic 30808
14 TMEM67 NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)SNV Pathogenic 56787 rs386834205 8:94784840-94784840 8:93772612-93772612
15 TMEM67 NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)SNV Pathogenic 217712 rs751309268 8:94768082-94768082 8:93755854-93755854
16 TMEM67 NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)SNV Pathogenic 217709 rs863225226 8:94770787-94770787 8:93758559-93758559
17 TMEM67 NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)SNV Pathogenic 217721 rs750950408 8:94777642-94777642 8:93765414-93765414
18 TMEM67 NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)SNV Pathogenic 217716 rs863225229 8:94792836-94792836 8:93780608-93780608
19 TMEM67 NM_153704.6(TMEM67):c.769A>G (p.Met257Val)SNV Pathogenic 217710 rs863225227 8:94792875-94792875 8:93780647-93780647
20 TMEM67 NM_001142301.1(TMEM67):c.735+3A>GSNV Pathogenic 217711 rs775256658 8:94793213-94793213 8:93780985-93780985
21 TMEM67 NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)SNV Pathogenic 217720 rs863225232 8:94794630-94794630 8:93782402-93782402
22 TMEM67 NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)SNV Pathogenic 217728 rs863225237 8:94794638-94794638 8:93782410-93782410
23 TMEM67 NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)SNV Pathogenic 217715 rs762543032 8:94768026-94768026 8:93755798-93755798
24 TMEM67 NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)SNV Pathogenic 217719 rs863225231 8:94794683-94794683 8:93782455-93782455
25 TMEM67 NM_001142301.1(TMEM67):c.1431+3A>GSNV Pathogenic 217707 rs863225224 8:94805527-94805527 8:93793299-93793299
26 TMEM67 NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)SNV Pathogenic 217724 rs116647652 8:94798513-94798513 8:93786285-93786285
27 TMEM67 NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)SNV Pathogenic 217713 rs863225228 8:94800112-94800112 8:93787884-93787884
28 TMEM67 NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)SNV Pathogenic 217708 rs863225225 8:94809412-94809412 8:93797184-93797184
29 TMEM67 NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)SNV Pathogenic 217717 rs751517725 8:94815880-94815880 8:93803652-93803652
30 TMEM67 NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)SNV Pathogenic 217718 rs863225230 8:94817035-94817035 8:93804807-93804807
31 TMEM67 NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)SNV Pathogenic 217723 rs863225234 8:94821150-94821150 8:93808922-93808922
32 TMEM67 NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)SNV Pathogenic 217727 rs863225236 8:94827569-94827569 8:93815341-93815341
33 TMEM67 NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys)SNV Pathogenic 217722 rs863225233 8:94827593-94827593 8:93815365-93815365
34 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
35 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
36 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
37 TMEM67 NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)SNV Pathogenic/Likely pathogenic 1378 rs267607119 8:94821126-94821126 8:93808898-93808898
38 TMEM67 NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)deletion Pathogenic/Likely pathogenic 56783 rs386834202 8:94777802-94777803 8:93765574-93765575
39 TMEM67 NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)SNV Pathogenic/Likely pathogenic 216826 rs775883520 8:94792831-94792831 8:93780603-93780603
40 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
41 TMEM67 NM_001142301.1(TMEM67):c.408+2T>GSNV Pathogenic/Likely pathogenic 1373 rs199821258 8:94777876-94777876 8:93765648-93765648
42 TMEM67 NM_001142301.1(TMEM67):c.1332+5G>ASNV Likely pathogenic 495328 rs1554555063 8:94803552-94803552 8:93791324-93791324
43 TMEM67 NM_153704.6(TMEM67):c.313-3T>GSNV Likely pathogenic 692261 8:94770708-94770708 8:93758480-93758480
44 TMEM67 NM_153704.6(TMEM67):c.1353del (p.Glu452fs)deletion Likely pathogenic 225493 rs749435317 8:94798515-94798515 8:93786287-93786287
45 TMEM67 NM_001142301.1(TMEM67):c.2418+5G>ASNV Likely pathogenic 217730 rs863225239 8:94821394-94821394 8:93809166-93809166
46 TMEM67 NM_001142301.1(TMEM67):c.2079+5deldeletion Likely pathogenic 217731 rs863225240 8:94815917-94815917 8:93803689-93803689
47 TMEM67 NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)SNV Conflicting interpretations of pathogenicity 242363 rs115563233 8:94811986-94811986 8:93799758-93799758
48 TMEM67 NM_153704.6(TMEM67):c.120T>C (p.Ser40=)SNV Conflicting interpretations of pathogenicity 262741 rs767999682 8:94767262-94767262 8:93755034-93755034
49 TMEM67 NM_001142301.1(TMEM67):c.626+9A>GSNV Conflicting interpretations of pathogenicity 262756 rs372597584 8:94792984-94792984 8:93780756-93780756
50 TMEM67 NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)SNV Conflicting interpretations of pathogenicity 262745 rs886038738 8:94821076-94821076 8:93808848-93808848

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 6:

73
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Tyr513Cys VAR_031987 rs137853107
2 TMEM67 p.Gly545Glu VAR_031988 rs267607114
3 TMEM67 p.Met252Thr VAR_062313 rs202149403
4 TMEM67 p.Pro358Leu VAR_063791 rs863225232
5 TMEM67 p.Ile833Thr VAR_063801 rs267607119
6 TMEM67 p.Asp711Ala VAR_075699 rs781383498

Expression for Joubert Syndrome 6

Search GEO for disease gene expression data for Joubert Syndrome 6.

Pathways for Joubert Syndrome 6

GO Terms for Joubert Syndrome 6

Cellular components related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.08 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2 cytosol GO:0005829 10.05 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
3 cytoskeleton GO:0005856 9.92 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
4 cell projection GO:0042995 9.86 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
5 centrosome GO:0005813 9.8 TMEM67 RPGRIP1L MKS1 CEP290 AHI1
6 cilium GO:0005929 9.76 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
7 microtubule organizing center GO:0005815 9.7 RPGRIP1L MKS1 CEP290
8 cell-cell junction GO:0005911 9.67 RPGRIP1L NPHP1 AHI1
9 ciliary basal body GO:0036064 9.67 RPGRIP1L MKS1 CEP290 AHI1
10 centriole GO:0005814 9.63 MKS1 CEP290 AHI1
11 photoreceptor connecting cilium GO:0032391 9.61 RPGRIP1L NPHP1 CEP290
12 ciliary transition zone GO:0035869 9.43 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
13 MKS complex GO:0036038 9.1 TMEM67 TMEM216 MKS1 CEP290 CC2D2A AHI1

Biological processes related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
2 non-motile cilium assembly GO:1905515 9.56 TMEM216 RPGRIP1L MKS1 CC2D2A
3 neural tube closure GO:0001843 9.51 MKS1 CC2D2A
4 determination of left/right symmetry GO:0007368 9.5 RPGRIP1L MKS1 CC2D2A
5 cell projection organization GO:0030030 9.5 TMEM67 TMEM216 NPHP1 MKS1 CEP290 CC2D2A
6 camera-type eye development GO:0043010 9.49 RPGRIP1L CC2D2A
7 motile cilium assembly GO:0044458 9.48 MKS1 CC2D2A
8 regulation of smoothened signaling pathway GO:0008589 9.46 RPGRIP1L MKS1
9 hindbrain development GO:0030902 9.43 CEP290 AHI1
10 head development GO:0060322 9.4 RPGRIP1L MKS1
11 embryonic brain development GO:1990403 9.37 MKS1 CC2D2A
12 ciliary basal body-plasma membrane docking GO:0097711 9.23 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

Sources for Joubert Syndrome 6

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
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