JBTS13
MCID: JBR028
MIFTS: 41

Joubert Syndrome 13 (JBTS13)

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

Aliases & Classifications for Joubert Syndrome 13

MalaCards integrated aliases for Joubert Syndrome 13:

Name: Joubert Syndrome 13 57 12 72 29 13 6 15 70
Jbts13 57 12 72
Joubert Syndrome, Type 13 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two sibs and an unrelated fetus have been reported (last curated february 2016)


HPO:

31
joubert syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110982
OMIM® 57 614173
OMIM Phenotypic Series 57 PS213300
MedGen 41 C3280031
SNOMED-CT via HPO 68 23024003 258211005
UMLS 70 C3280031

Summaries for Joubert Syndrome 13

UniProtKB/Swiss-Prot : 72 Joubert syndrome 13: 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 13, also known as jbts13, is related to meckel syndrome, type 7 and orofaciodigital syndrome iv. An important gene associated with Joubert Syndrome 13 is TCTN1 (Tectonic Family Member 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, and related phenotypes are cerebellar vermis hypoplasia and molar tooth sign on mri

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.

More information from OMIM: 614173 PS213300

Related Diseases for Joubert Syndrome 13

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
Joubert Syndrome 37

Diseases related to Joubert Syndrome 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 7 10.2 TMEM216 CC2D2A
2 orofaciodigital syndrome iv 10.2 TMEM216 OFD1
3 orofaciodigital syndrome vii 10.1 TMEM216 GLI3
4 nephronophthisis 1 10.1 NPHP1 AHI1
5 anus, imperforate 10.1 TMEM216 GLI3
6 greig cephalopolysyndactyly syndrome 10.0 KIF7 GLI3
7 nephronophthisis 13 10.0 TTC21B NPHP1
8 pallister-hall syndrome 10.0 TMEM216 KIF7 GLI3
9 polydactyly, postaxial, type a1 9.9 KIF7 GLI3 CC2D2A
10 oculomotor apraxia 9.9 NPHP1 AHI1
11 simpson-golabi-behmel syndrome, type 2 9.9 OFD1 CEP290
12 chromosome 2q35 duplication syndrome 9.9 TMEM216 OFD1 GLI3
13 orofaciodigital syndrome i 9.8 OFD1 CEP290
14 polycystic kidney disease 2 with or without polycystic liver disease 9.8 TMEM67 ARL13B
15 arima syndrome 9.8 TMEM216 CEP290 CC2D2A
16 encephalocele 9.8 TMEM67 CEP290 CC2D2A
17 pathologic nystagmus 9.7 TMEM67 KIF7 CEP290
18 retinitis pigmentosa 2 9.7 CEP290 ARL13B
19 bardet-biedl syndrome 6 9.7 RPGRIP1L CEP290
20 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L CC2D2A AHI1
21 bardet-biedl syndrome 11 9.7 RPGRIP1L CEP290
22 meckel syndrome, type 8 9.7 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
23 alstrom syndrome 9.7 RPGRIP1L CEP290
24 orofacial cleft 9.7 TMEM216 OFD1 GLI3
25 joubert syndrome 15 9.6 RPGRIP1L NPHP1 KIF7 CC2D2A
26 retinal aplasia 9.6 TTC21B NPHP1 CEP290
27 polycystic kidney disease 9.6 TMEM67 OFD1 CEP290 CC2D2A
28 short-rib thoracic dysplasia 6 with or without polydactyly 9.6 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 OFD1
29 johanson-blizzard syndrome 9.5 TMEM216 RPGRIP1L CEP290 CC2D2A
30 holoprosencephaly 9.5 TMEM216 TCTN2 TCTN1 KIF7 GLI3 ARL13B
31 orofaciodigital syndrome 9.5 TMEM67 TMEM216 TCTN1 OFD1 CEP290
32 renal-hepatic-pancreatic dysplasia 9.4 OFD1 NPHP1 KIF7 CEP290
33 bardet-biedl syndrome 14 9.4 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
34 nephronophthisis 12 9.3 TTC21B RPGRIP1L NPHP1 CEP290
35 nephronophthisis 16 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
36 bardet-biedl syndrome 1 9.3 TMEM67 TMEM216 NPHP1 KIF7 CEP290
37 physical disorder 9.2 TMEM67 OFD1 GLI3 CEP290 ARL13B
38 ciliopathy 9.2 TTC21B TMEM67 RPGRIP1L KIF7 CEP290 CC2D2A
39 juvenile nephronophthisis 9.2 TTC21B TMEM67 NPHP1 CEP290 AHI1
40 acrocallosal syndrome 9.1 TMEM216 RPGRIP1L NPHP1 KIF7 GLI3 AHI1
41 cogan syndrome 9.1 RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
42 retinal degeneration 9.1 TTC21B TMEM67 RPGRIP1L NPHP1 CEP290
43 apraxia 9.1 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A AHI1
44 cystic kidney disease 9.1 TMEM67 OFD1 NPHP1 CEP290 CC2D2A ARL13B
45 neural tube defects 9.0 TMEM67 TMEM216 RPGRIP1L GLI3 CEP290 CC2D2A
46 joubert syndrome 9 9.0 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
47 nephronophthisis 14 9.0 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP1 CEP290
48 joubert syndrome 24 8.9 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
49 meckel syndrome, type 2 8.9 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CEP290
50 nephronophthisis 11 8.9 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290

Graphical network of the top 20 diseases related to Joubert Syndrome 13:



Diseases related to Joubert Syndrome 13

Symptoms & Phenotypes for Joubert Syndrome 13

Human phenotypes related to Joubert Syndrome 13:

31
# Description HPO Frequency HPO Source Accession
1 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
2 molar tooth sign on mri 31 very rare (1%) HP:0002419
3 pachygyria 31 HP:0001302

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
cerebellar vermis hypoplasia
molar tooth sign seen on brain mri
frontotemporal pachygyria

Skeletal Limbs:
limb anomalies (in some patients)

Genitourinary Kidneys:
normal renal ultrasound at ages 4 and 7 (in 2 family)

Clinical features from OMIM®:

614173 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Joubert Syndrome 13:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 AHI1 ARL13B CC2D2A CEP290 GLI3 KIF7
2 growth/size/body region MP:0005378 10.14 AHI1 ARL13B CC2D2A CEP290 GLI3 KIF7
3 craniofacial MP:0005382 10.13 CC2D2A CEP290 GLI3 KIF7 OFD1 RPGRIP1L
4 embryo MP:0005380 10.13 ARL13B CC2D2A GLI3 KIF7 OFD1 RPGRIP1L
5 cardiovascular system MP:0005385 10.11 CC2D2A CEP290 GLI3 KIF7 OFD1 RPGRIP1L
6 nervous system MP:0003631 10.07 AHI1 ARL13B CC2D2A CEP290 GLI3 KIF7
7 mortality/aging MP:0010768 10.06 AHI1 ARL13B CC2D2A CEP290 GLI3 KIF7
8 limbs/digits/tail MP:0005371 10.02 CC2D2A GLI3 KIF7 OFD1 RPGRIP1L TCTN1
9 digestive/alimentary MP:0005381 10 CC2D2A GLI3 KIF7 OFD1 RPGRIP1L TCTN2
10 renal/urinary system MP:0005367 9.85 AHI1 ARL13B CC2D2A CEP290 GLI3 NPHP1
11 respiratory system MP:0005388 9.5 ARL13B CC2D2A CEP290 GLI3 KIF7 OFD1
12 vision/eye MP:0005391 9.32 AHI1 ARL13B CC2D2A CEP290 GLI3 KIF7

Drugs & Therapeutics for Joubert Syndrome 13

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 13

Genetic Tests for Joubert Syndrome 13

Genetic tests related to Joubert Syndrome 13:

# Genetic test Affiliating Genes
1 Joubert Syndrome 13 29 TCTN1

Anatomical Context for Joubert Syndrome 13

MalaCards organs/tissues related to Joubert Syndrome 13:

40
Brain

Publications for Joubert Syndrome 13

Articles related to Joubert Syndrome 13:

# Title Authors PMID Year
1
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 6 57
26477546 2015
2
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 57 6
21725307 2011
3
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015

Variations for Joubert Syndrome 13

ClinVar genetic disease variations for Joubert Syndrome 13:

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCTN1 NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter) SNV Pathogenic 829835 rs1593376626 GRCh37: 12:111082894-111082894
GRCh38: 12:110645089-110645089
2 TCTN1 NM_001082538.3(TCTN1):c.843+1del Deletion Pathogenic 212386 rs797046039 GRCh37: 12:111074306-111074306
GRCh38: 12:110636501-110636501
3 TCTN1 NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) SNV Pathogenic 221983 rs751962801 GRCh37: 12:111078242-111078242
GRCh38: 12:110640437-110640437
4 TCTN1 NM_001082538.3(TCTN1):c.221-2A>G SNV Pathogenic 30803 rs367543065 GRCh37: 12:111057639-111057639
GRCh38: 12:110619834-110619834
5 TCTN1 NM_001082538.3(TCTN1):c.1332-2A>G SNV Pathogenic 997564 GRCh37: 12:111082770-111082770
GRCh38: 12:110644965-110644965
6 TCTN1 NM_001082538.3(TCTN1):c.342-2A>G SNV Pathogenic 183312 rs730882221 GRCh37: 12:111064165-111064165
GRCh38: 12:110626360-110626360
7 TCTN1 NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs) Duplication Pathogenic 1033279 GRCh37: 12:111052012-111052013
GRCh38: 12:110614207-110614208
8 TCTN1 NM_001082538.3(TCTN1):c.344G>A (p.Gly115Asp) SNV Uncertain significance 883983 GRCh37: 12:111064169-111064169
GRCh38: 12:110626364-110626364
9 TCTN1 NM_001082538.3(TCTN1):c.343G>A (p.Gly115Ser) SNV Uncertain significance 883982 GRCh37: 12:111064168-111064168
GRCh38: 12:110626363-110626363
10 TCTN1 NM_001082538.3(TCTN1):c.1170T>A (p.Ala390=) SNV Uncertain significance 882103 GRCh37: 12:111079412-111079412
GRCh38: 12:110641607-110641607
11 TCTN1 NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg) SNV Uncertain significance 882102 GRCh37: 12:111078300-111078300
GRCh38: 12:110640495-110640495
12 TCTN1 NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) SNV Uncertain significance 695277 rs371899538 GRCh37: 12:111078224-111078224
GRCh38: 12:110640419-110640419
13 TCTN1 NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro) SNV Uncertain significance 635023 rs1225241777 GRCh37: 12:111070341-111070341
GRCh38: 12:110632536-110632536
14 TCTN1 NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg) SNV Uncertain significance 635024 rs1566001519 GRCh37: 12:111079413-111079413
GRCh38: 12:110641608-110641608
15 TCTN1 NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile) SNV Uncertain significance 1033278 GRCh37: 12:111080142-111080142
GRCh38: 12:110642337-110642337
16 TCTN1 NM_001082538.3(TCTN1):c.-14G>A SNV Uncertain significance 681543 rs762612208 GRCh37: 12:111051974-111051974
GRCh38: 12:110614169-110614169
17 TCTN1 NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) SNV Uncertain significance 307204 rs776696098 GRCh37: 12:111052198-111052198
GRCh38: 12:110614393-110614393
18 TCTN1 NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) SNV Uncertain significance 307210 rs373723058 GRCh37: 12:111085594-111085594
GRCh38: 12:110647789-110647789
19 TCTN1 NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) SNV Uncertain significance 198764 rs118057448 GRCh37: 12:111078278-111078278
GRCh38: 12:110640473-110640473
20 TCTN1 NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) SNV Uncertain significance 160100 rs199529768 GRCh37: 12:111078284-111078284
GRCh38: 12:110640479-110640479
21 TCTN1 NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) SNV Uncertain significance 307208 rs145970332 GRCh37: 12:111078304-111078304
GRCh38: 12:110640499-110640499
22 TCTN1 NM_001082538.2(TCTN1):c.-84T>C SNV Uncertain significance 307201 rs886048957 GRCh37: 12:111051904-111051904
GRCh38: 12:110614099-110614099
23 TCTN1 NM_001082538.3(TCTN1):c.543A>T (p.Thr181=) SNV Uncertain significance 880696 GRCh37: 12:111066642-111066642
GRCh38: 12:110628837-110628837
24 TCTN1 NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn) SNV Uncertain significance 880697 GRCh37: 12:111070296-111070296
GRCh38: 12:110632491-110632491
25 TCTN1 NM_001082538.3(TCTN1):c.794C>G (p.Ala265Gly) SNV Uncertain significance 880698 GRCh37: 12:111072556-111072556
GRCh38: 12:110634751-110634751
26 TCTN1 NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) SNV Uncertain significance 880699 GRCh37: 12:111072564-111072564
GRCh38: 12:110634759-110634759
27 TCTN1 NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro) SNV Uncertain significance 883241 GRCh37: 12:111080134-111080134
GRCh38: 12:110642329-110642329
28 TCTN1 NM_001082538.3(TCTN1):c.1301G>A (p.Gly434Asp) SNV Uncertain significance 883242 GRCh37: 12:111080164-111080164
GRCh38: 12:110642359-110642359
29 TCTN1 NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) SNV Uncertain significance 883243 GRCh37: 12:111085603-111085603
GRCh38: 12:110647798-110647798
30 TCTN1 NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) SNV Uncertain significance 307206 rs886048958 GRCh37: 12:111064189-111064189
GRCh38: 12:110626384-110626384
31 TCTN1 NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) SNV Uncertain significance 307207 rs370252911 GRCh37: 12:111066673-111066673
GRCh38: 12:110628868-110628868
32 TCTN1 NM_001082538.2(TCTN1):c.-140A>G SNV Uncertain significance 307200 rs886048956 GRCh37: 12:111051848-111051848
GRCh38: 12:110614043-110614043
33 TCTN1 NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) SNV Uncertain significance 307209 rs371066430 GRCh37: 12:111078837-111078837
GRCh38: 12:110641032-110641032
34 TCTN1 NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) SNV Uncertain significance 257400 rs145478892 GRCh37: 12:111057718-111057718
GRCh38: 12:110619913-110619913
35 TCTN1 NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) SNV Uncertain significance 307203 rs572300029 GRCh37: 12:111052001-111052001
GRCh38: 12:110614196-110614196
36 TCTN1 NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) SNV Uncertain significance 461755 rs188817098 GRCh37: 12:111080154-111080154
GRCh38: 12:110642349-110642349
37 TCTN1 NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) Deletion Uncertain significance 631669 rs757348545 GRCh37: 12:111082855-111082855
GRCh38: 12:110645050-110645050
38 TCTN1 NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) SNV Likely benign 307205 rs140230455 GRCh37: 12:111057747-111057747
GRCh38: 12:110619942-110619942
39 TCTN1 NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) SNV Likely benign 93533 rs75714509 GRCh37: 12:111080097-111080097
GRCh38: 12:110642292-110642292
40 TCTN1 NM_001082538.3(TCTN1):c.-46G>C SNV Likely benign 307202 rs538932401 GRCh37: 12:111051942-111051942
GRCh38: 12:110614137-110614137
41 TCTN1 NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) SNV Likely benign 197179 rs117896500 GRCh37: 12:111066587-111066587
GRCh38: 12:110628782-110628782
42 TCTN1 NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) SNV Benign 373177 rs114568905 GRCh37: 12:111082827-111082827
GRCh38: 12:110645022-110645022
43 TCTN1 NM_001082538.3(TCTN1):c.220+12G>C SNV Benign 160096 rs76843552 GRCh37: 12:111052219-111052219
GRCh38: 12:110614414-110614414
44 TCTN1 NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) SNV Benign 160099 rs16940927 GRCh37: 12:111078238-111078238
GRCh38: 12:110640433-110640433
45 TCTN1 NM_001082538.3(TCTN1):c.473-10T>A SNV Benign 160098 rs12307716 GRCh37: 12:111066562-111066562
GRCh38: 12:110628757-110628757
46 TCTN1 NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) SNV Benign 160095 rs118096349 GRCh37: 12:111082836-111082836
GRCh38: 12:110645031-110645031

Expression for Joubert Syndrome 13

Search GEO for disease gene expression data for Joubert Syndrome 13.

Pathways for Joubert Syndrome 13

GO Terms for Joubert Syndrome 13

Cellular components related to Joubert Syndrome 13 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.22 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 cytoskeleton GO:0005856 10.1 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
3 centrosome GO:0005813 9.89 TMEM67 RPGRIP1L OFD1 CEP290 AHI1
4 MKS complex GO:0036038 9.8 TMEM67 TMEM216 TCTN2 TCTN1 CEP290 CC2D2A
5 ciliary basal body GO:0036064 9.77 RPGRIP1L OFD1 KIF7 CEP290 AHI1
6 cilium GO:0005929 9.73 TTC21B TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1
7 cell-cell junction GO:0005911 9.72 RPGRIP1L NPHP1 AHI1
8 motile cilium GO:0031514 9.71 OFD1 NPHP1 ARL13B
9 centriole GO:0005814 9.7 OFD1 CEP290 AHI1
10 ciliary transition zone GO:0035869 9.7 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L CEP290
11 axoneme GO:0005930 9.69 RPGRIP1L GLI3 ARL13B
12 ciliary membrane GO:0060170 9.65 TMEM67 TCTN2 ARL13B
13 ciliary tip GO:0097542 9.63 TTC21B KIF7 GLI3
14 photoreceptor connecting cilium GO:0032391 9.61 RPGRIP1L NPHP1 CEP290
15 non-motile cilium GO:0097730 9.56 ARL13B AHI1
16 cell projection GO:0042995 9.47 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L

Biological processes related to Joubert Syndrome 13 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.81 TMEM67 TMEM216 TCTN2 TCTN1 OFD1 NPHP1
2 in utero embryonic development GO:0001701 9.75 TCTN1 RPGRIP1L GLI3
3 kidney development GO:0001822 9.72 RPGRIP1L GLI3 CC2D2A
4 determination of left/right symmetry GO:0007368 9.69 RPGRIP1L CC2D2A ARL13B
5 non-motile cilium assembly GO:1905515 9.67 TMEM216 RPGRIP1L CC2D2A ARL13B
6 smoothened signaling pathway GO:0007224 9.65 TTC21B TCTN2 GLI3 CC2D2A ARL13B
7 ciliary basal body-plasma membrane docking GO:0097711 9.65 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
8 camera-type eye development GO:0043010 9.63 RPGRIP1L GLI3 CC2D2A
9 telencephalon development GO:0021537 9.61 TCTN1 RPGRIP1L GLI3
10 dorsal/ventral pattern formation GO:0009953 9.58 GLI3 ARL13B
11 regulation of smoothened signaling pathway GO:0008589 9.58 TTC21B TCTN1 RPGRIP1L
12 negative regulation of smoothened signaling pathway GO:0045879 9.57 KIF7 GLI3
13 limb morphogenesis GO:0035108 9.56 RPGRIP1L GLI3
14 hindbrain development GO:0030902 9.54 CEP290 AHI1
15 left/right axis specification GO:0070986 9.52 ARL13B AHI1
16 protein localization to ciliary transition zone GO:1904491 9.5 TCTN2 TCTN1 CC2D2A
17 forebrain dorsal/ventral pattern formation GO:0021798 9.49 TTC21B GLI3
18 neural tube patterning GO:0021532 9.48 RPGRIP1L ARL13B
19 cilium assembly GO:0060271 9.32 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1

Sources for Joubert Syndrome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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