JBTS9
MCID: JBR014
MIFTS: 41

Joubert Syndrome 9 (JBTS9)

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

Aliases & Classifications for Joubert Syndrome 9

MalaCards integrated aliases for Joubert Syndrome 9:

Name: Joubert Syndrome 9 56 12 73 29 13 6 43 15 71
Jbts9 56 12 73
Joubert Syndrome, Type 9 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
joubert syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 9

UniProtKB/Swiss-Prot : 73 Joubert syndrome 9: 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 9, also known as jbts9, is related to joubert syndrome 16 and joubert syndrome 15. An important gene associated with Joubert Syndrome 9 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Related phenotypes are seizures and nystagmus

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.

More information from OMIM: 612285 PS213300

Related Diseases for Joubert Syndrome 9

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

(showing 61, show less)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 16 10.1 TMEM216 CEP41
2 joubert syndrome 15 10.0 TCTN2 CEP41
3 joubert syndrome 14 10.0 TMEM216 RPGRIP1L
4 oligohydramnios 9.9 TMEM67 CC2D2A
5 cogan syndrome 9.9 CEP290 CC2D2A
6 nephronophthisis 12 9.9 CEP41 CEP290
7 ciliopathy 9.9 TMEM67 RPGRIP1L
8 acrocallosal syndrome 9.9 TMEM216 RPGRIP1L
9 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L CC2D2A
10 coach syndrome 9.7 TMEM67 RPGRIP1L CC2D2A
11 arima syndrome 9.7 TMEM216 CEP290 CC2D2A
12 encephalocele 9.7 TMEM67 CEP290 CC2D2A
13 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 TMEM67 TMEM216 TCTN2
14 polycystic kidney disease 2 with or without polycystic liver disease 9.6 TMEM67 ARL13B
15 nephronophthisis 19 9.5 TMEM67 RPGRIP1L CEP290
16 joubert syndrome 13 9.5 TMEM67 TMEM216 TCTN2 CC2D2A
17 pathologic nystagmus 9.4 TMEM67 CEP290
18 asphyxiating thoracic dystrophy 9.4 RPGRIP1L ARL13B
19 nephronophthisis 7 9.3 TMEM67 RPGRIP1L CEP290 CC2D2A
20 nephronophthisis 2 9.3 TMEM67 RPGRIP1L CEP290 CC2D2A
21 retinal degeneration 9.3 TMEM67 RPGRIP1L CEP290
22 nephronophthisis 9 9.2 TMEM67 TMEM216 RPGRIP1L CEP290
23 short-rib thoracic dysplasia 1 with or without polydactyly 9.1 TMEM67 RPGRIP1L CC2D2A ARL13B
24 meckel syndrome, type 8 9.1 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
25 nephronophthisis 11 9.0 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
26 bardet-biedl syndrome 14 9.0 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
27 ellis-van creveld syndrome 8.9 TMEM216 RPGRIP1L CEP290 ARL13B
28 nephronophthisis 14 8.9 TMEM67 TCTN2 RPGRIP1L CEP290 CC2D2A
29 joubert syndrome 24 8.9 TCTN2 RPGRIP1L CEP290 ARL13B
30 meckel syndrome, type 6 8.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
31 meckel syndrome, type 5 8.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
32 joubert syndrome 5 8.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
33 meckel syndrome, type 2 8.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
34 apraxia 8.6 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
35 joubert syndrome 10 8.5 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A ARL13B
36 joubert syndrome 8 8.4 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
37 joubert syndrome 7 8.4 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
38 joubert syndrome 6 8.4 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
39 joubert syndrome 2 8.4 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
40 orofaciodigital syndrome 8.4 TMEM67 TMEM216 TCTN2 CEP290 CC2D2A ARL13B
41 leber congenital amaurosis 8.3 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
42 cranioectodermal dysplasia 1 8.3 TMEM67 TCTN2 RPGRIP1L CEP290 CC2D2A ARL13B
43 retinitis pigmentosa 8.3 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
44 hydrolethalus syndrome 1 8.1 TMEM67 TMEM216 RPGRIP1L CEP41 CEP290 CC2D2A
45 meckel syndrome, type 4 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
46 joubert syndrome 4 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
47 meckel syndrome, type 3 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
48 orofaciodigital syndrome vi 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
49 polycystic kidney disease 4 with or without polycystic liver disease 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
50 cystic kidney disease 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
51 visceral heterotaxy 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
52 coloboma of macula 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
53 kartagener syndrome 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
54 bardet-biedl syndrome 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
55 primary ciliary dyskinesia 8.0 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
56 joubert syndrome 1 7.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
57 nephronophthisis 7.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
58 joubert syndrome 3 7.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
59 senior-loken syndrome 1 7.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
60 meckel syndrome, type 1 7.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
61 fundus dystrophy 7.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290

Graphical network of the top 20 diseases related to Joubert Syndrome 9:



Diseases related to Joubert Syndrome 9

Symptoms & Phenotypes for Joubert Syndrome 9

Human phenotypes related to Joubert Syndrome 9:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 nystagmus 31 HP:0000639
3 intellectual disability 31 HP:0001249
4 cataract 31 HP:0000518
5 rod-cone dystrophy 31 HP:0000510
6 ventriculomegaly 31 HP:0002119
7 astigmatism 31 HP:0000483
8 molar tooth sign on mri 31 HP:0002419

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
cataract
astigmatism
retinitis pigmentosa

Neurologic Central Nervous System:
ventriculomegaly
seizures (in some patients)
mental retardation, mild to moderate
molar tooth sign

Clinical features from OMIM:

612285

MGI Mouse Phenotypes related to Joubert Syndrome 9:

45 (showing 7, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 CC2D2A CEP290 CEP41 RPGRIP1L TCTN2 TMEM67
2 cellular MP:0005384 9.85 ARL13B CC2D2A CEP290 RPGRIP1L TCTN2 TMEM67
3 embryo MP:0005380 9.73 ARL13B CC2D2A CEP41 RPGRIP1L TCTN2 TMEM67
4 craniofacial MP:0005382 9.72 CC2D2A CEP290 RPGRIP1L TCTN2 TMEM67
5 nervous system MP:0003631 9.5 ARL13B CC2D2A CEP290 CEP41 RPGRIP1L TCTN2
6 limbs/digits/tail MP:0005371 9.46 CC2D2A RPGRIP1L TCTN2 TMEM67
7 renal/urinary system MP:0005367 9.02 ARL13B CC2D2A CEP290 RPGRIP1L TMEM67

Drugs & Therapeutics for Joubert Syndrome 9

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 9

Cochrane evidence based reviews: joubert syndrome 9

Genetic Tests for Joubert Syndrome 9

Genetic tests related to Joubert Syndrome 9:

# Genetic test Affiliating Genes
1 Joubert Syndrome 9 29 CC2D2A

Anatomical Context for Joubert Syndrome 9

Publications for Joubert Syndrome 9

Articles related to Joubert Syndrome 9:

(showing 8, show less)
# Title Authors PMID Year
1
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 6 56
18950740 2008
2
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 56 6
18387594 2008
3
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
4
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 56
22241855 2012
5
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 56
22246503 2012
6
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
7
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
8
Joubert Syndrome 6
20301500 2003

Variations for Joubert Syndrome 9

ClinVar genetic disease variations for Joubert Syndrome 9:

6 (showing 56, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter)SNV Pathogenic 745 rs118204053 4:15560806-15560806 4:15559183-15559183
2 CC2D2A CC2D2A, 1-BP DEL, 3289Gdeletion Pathogenic 746
3 CC2D2A NM_001080522.2(CC2D2A):c.3289delGdeletion Pathogenic 56303 rs386833751 4:15569300-15569300 4:15567677-15567677
4 CC2D2A NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met)SNV Pathogenic 56304 rs386833752 4:15569352-15569352 4:15567729-15567729
5 CC2D2A NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter)duplication Pathogenic 56309 rs386833757 4:15581593-15581593 4:15579970-15579970
6 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589553-15589553 4:15587930-15587930
7 CC2D2A NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg)insertion Pathogenic 217611 rs762998472 4:15529183-15529184 4:15527560-15527561
8 CC2D2A NM_001080522.2(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn)deletion Pathogenic 217613 rs863225177 4:15534852-15534854 4:15533229-15533231
9 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)SNV Pathogenic 217618 rs781252161 4:15534907-15534907 4:15533284-15533284
10 CC2D2A NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro)SNV Pathogenic 217610 rs754221308 4:15538611-15538611 4:15536988-15536988
11 CC2D2A NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter)SNV Pathogenic 217605 rs200904521 4:15556832-15556832 4:15555209-15555209
12 CC2D2A NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys)SNV Pathogenic 217615 rs863225178 4:15558972-15558972 4:15557349-15557349
13 CC2D2A NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val)SNV Pathogenic 217604 rs773881370 4:15562230-15562230 4:15560607-15560607
14 CC2D2A CC2D2A, IVS19DS, G-C, +1SNV Pathogenic 741
15 CC2D2A NM_001080522.2(CC2D2A):c.1017+1G>ASNV Pathogenic 166801 rs200407856 4:15517628-15517628 4:15516005-15516005
16 CC2D2A NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala)SNV Pathogenic 217601 rs863225173 4:15565097-15565097 4:15563474-15563474
17 CC2D2A NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His)SNV Pathogenic 217595 rs863225169 4:15569105-15569105 4:15567482-15567482
18 CC2D2A NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala)SNV Pathogenic 217598 rs863225170 4:15570969-15570969 4:15569346-15569346
19 CC2D2A NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs)duplication Pathogenic 217599 rs863225171 4:15575921-15575924 4:15574298-15574301
20 CC2D2A NM_001080522.2(CC2D2A):c.3772-1G>TSNV Pathogenic 217600 rs863225172 4:15581590-15581590 4:15579967-15579967
21 CC2D2A NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)SNV Pathogenic 217597 rs779823379 4:15581669-15581669 4:15580046-15580046
22 CC2D2A NM_001080522.2(CC2D2A):c.3892_3893del (p.Val1298fs)deletion Pathogenic 217596 rs763735590 4:15581710-15581711 4:15580087-15580088
23 CC2D2A NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln)SNV Pathogenic 217612 rs763486732 4:15587793-15587793 4:15586170-15586170
24 CC2D2A NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr)SNV Pathogenic 217609 rs863225176 4:15591214-15591214 4:15589591-15589591
25 CC2D2A NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala)SNV Pathogenic 217594 rs863225168 4:15591277-15591277 4:15589654-15589654
26 CC2D2A NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His)SNV Pathogenic 217616 rs863225179 4:15599083-15599083 4:15597460-15597460
27 CC2D2A NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala)SNV Pathogenic 217603 rs863225174 4:15602926-15602926 4:15601303-15601303
28 CC2D2A NM_001080522.2(CC2D2A):c.4842_4843CT[1] (p.Ser1615fs)short repeat Pathogenic 217606 rs863225175 4:15603028-15603031 4:15601405-15601408
29 CC2D2A NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter)SNV Pathogenic 210609 rs764719093 4:15558984-15558984 4:15557361-15557361
30 CC2D2A NM_001080522.2(CC2D2A):c.4019_4020AC[1] (p.Thr1341fs)short repeat Pathogenic 637997 4:15587823-15587824 4:15586200-15586201
31 CC2D2A NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs)deletion Pathogenic/Likely pathogenic 210612 rs797045437 4:15599057-15599060 4:15597434-15597437
32 CC2D2A NM_001080522.2(CC2D2A):c.3975+4_3975+7delshort repeat Pathogenic/Likely pathogenic 217617 rs386833759 4:15581798-15581801 4:15580175-15580178
33 CC2D2A NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser)SNV Pathogenic/Likely pathogenic 743 rs118204051 4:15569375-15569375 4:15567752-15567752
34 CC2D2A NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys)SNV Pathogenic/Likely pathogenic 744 rs118204052 4:15601237-15601237 4:15599614-15599614
35 CC2D2A NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter)SNV Pathogenic/Likely pathogenic 217602 rs370880399 4:15565018-15565018 4:15563395-15563395
36 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter)SNV Pathogenic/Likely pathogenic 747 rs386833750 4:15565108-15565108 4:15563485-15563485
37 CC2D2A NM_001080522.2(CC2D2A):c.3976-3C>ASNV Likely pathogenic 217619 rs576298659 4:15587777-15587777 4:15586154-15586154
38 CC2D2A NM_001080522.2(CC2D2A):c.585_586dup (p.Thr196fs)duplication Likely pathogenic 547169 rs1392635342 4:15512914-15512915 4:15511291-15511292
39 CC2D2A NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs)deletion Likely pathogenic 587631 rs1560184664 4:15565085-15565086 4:15563462-15563463
40 CC2D2A NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val)SNV Conflicting interpretations of pathogenicity 217614 rs778858648 4:15601255-15601255 4:15599632-15599632
41 CC2D2A NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val)SNV Conflicting interpretations of pathogenicity 217607 rs201502401 4:15601322-15601322 4:15599699-15599699
42 CC2D2A NM_001080522.2(CC2D2A):c.3594+5G>ASNV Conflicting interpretations of pathogenicity 217620 rs863225181 4:15572124-15572124 4:15570501-15570501
43 CC2D2A NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr)SNV Conflicting interpretations of pathogenicity 217608 rs760918829 4:15575774-15575774 4:15574151-15574151
44 CC2D2A NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met)SNV Conflicting interpretations of pathogenicity 748 rs267606709 4:15569358-15569358 4:15567735-15567735
45 CC2D2A NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln)SNV Conflicting interpretations of pathogenicity 126234 rs187003641 4:15559105-15559105 4:15557482-15557482
46 CC2D2A NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys)SNV Uncertain significance 194715 rs201439617 4:15539594-15539594 4:15537971-15537971
47 CC2D2A NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys)SNV Uncertain significance 634449 rs751808973 4:15552588-15552588 4:15550965-15550965
48 CC2D2A NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu)SNV Uncertain significance 634561 rs1560192615 4:15581660-15581660 4:15580037-15580037
49 CC2D2A NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg)SNV Uncertain significance 238276 rs200764366 4:15552591-15552591 4:15550968-15550968
50 CC2D2A NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys)SNV Uncertain significance 238282 rs201219078 4:15603037-15603037 4:15601414-15601414
51 CC2D2A NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val)SNV Uncertain significance 288557 rs188891842 4:15572102-15572102 4:15570479-15570479
52 CC2D2A NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His)SNV Uncertain significance 288560 rs150093365 4:15562176-15562176 4:15560553-15560553
53 CC2D2A NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=)SNV Uncertain significance 388321 rs371608031 4:15565098-15565098 4:15563475-15563475
54 CC2D2A NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala)SNV Uncertain significance 421683 rs200427832 4:15581688-15581688 4:15580065-15580065
55 CC2D2A NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu)SNV Uncertain significance 429980 rs200904521 4:15556832-15556832 4:15555209-15555209
56 CC2D2A NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met)SNV Uncertain significance 497958 rs201884883 4:15539703-15539703 4:15538080-15538080

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 9:

73 (showing 19, show less)
# Symbol AA change Variation ID SNP ID
1 CC2D2A p.Gln1096His VAR_055321 rs863225169
2 CC2D2A p.Pro1122Ser VAR_055322 rs118204051
3 CC2D2A p.Arg1528Cys VAR_055323 rs118204052
4 CC2D2A p.Leu1551Pro VAR_055324 rs763425007
5 CC2D2A p.Thr1114Met VAR_062293 rs386833752
6 CC2D2A p.Pro721Ser VAR_062804 rs199768782
7 CC2D2A p.Asp1556Val VAR_062806 rs201502401
8 CC2D2A p.Thr1116Met VAR_063804 rs267606709
9 CC2D2A p.Glu1447Ala VAR_067535 rs387907058
10 CC2D2A p.Glu1126Lys VAR_068169 rs147353290
11 CC2D2A p.Asn1520Ser VAR_069045 rs147890234
12 CC2D2A p.Tyr1568His VAR_069046
13 CC2D2A p.Trp1182Arg VAR_075698 rs386833755
14 CC2D2A p.Leu559Pro VAR_076883 rs754221308
15 CC2D2A p.Val1045Ala VAR_076886 rs863225173
16 CC2D2A p.Val1151Ala VAR_076887 rs863225170
17 CC2D2A p.Arg1284Cys VAR_076888 rs779823379
18 CC2D2A p.Arg1284His VAR_076889 rs754586025
19 CC2D2A p.Val1430Ala VAR_076891 rs863225168

Expression for Joubert Syndrome 9

Search GEO for disease gene expression data for Joubert Syndrome 9.

Pathways for Joubert Syndrome 9

GO Terms for Joubert Syndrome 9

Cellular components related to Joubert Syndrome 9 according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
2 cell projection GO:0042995 9.86 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
3 centrosome GO:0005813 9.73 TMEM67 RPGRIP1L CEP41 CEP290
4 cilium GO:0005929 9.7 TMEM67 TMEM216 RPGRIP1L CEP41 CEP290 CC2D2A
5 microtubule organizing center GO:0005815 9.65 RPGRIP1L CEP41 CEP290
6 ciliary basal body GO:0036064 9.58 RPGRIP1L CEP41 CEP290
7 ciliary membrane GO:0060170 9.54 TMEM67 TCTN2 ARL13B
8 photoreceptor connecting cilium GO:0032391 9.46 RPGRIP1L CEP290
9 ciliary transition zone GO:0035869 9.35 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
10 MKS complex GO:0036038 9.02 TMEM67 TMEM216 TCTN2 CEP290 CC2D2A

Biological processes related to Joubert Syndrome 9 according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.63 TMEM67 TMEM216 TCTN2 CEP41 CEP290 CC2D2A
2 non-motile cilium assembly GO:1905515 9.56 TMEM216 RPGRIP1L CC2D2A ARL13B
3 determination of left/right symmetry GO:0007368 9.54 RPGRIP1L CC2D2A ARL13B
4 smoothened signaling pathway GO:0007224 9.5 TCTN2 CC2D2A ARL13B
5 ciliary basal body-plasma membrane docking GO:0097711 9.5 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.48 CEP41 CEP290
7 camera-type eye development GO:0043010 9.46 RPGRIP1L CC2D2A
8 protein localization to ciliary transition zone GO:1904491 9.43 TCTN2 CC2D2A
9 neural tube patterning GO:0021532 9.4 RPGRIP1L ARL13B
10 cilium assembly GO:0060271 9.23 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP41 CEP290

Sources for Joubert Syndrome 9

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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