JBTS14
MCID: JBR024
MIFTS: 41

Joubert Syndrome 14 (JBTS14)

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

Aliases & Classifications for Joubert Syndrome 14

MalaCards integrated aliases for Joubert Syndrome 14:

Name: Joubert Syndrome 14 57 12 72 29 13 6 15 70
Jbts14 57 12 72
Joubert Syndrome, Type 14 39

Characteristics:

OMIM®:

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

Miscellaneous:
death often occurs in the first decade


HPO:

31
joubert syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 14

UniProtKB/Swiss-Prot : 72 Joubert syndrome 14: An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly.

MalaCards based summary : Joubert Syndrome 14, also known as jbts14, is related to joubert syndrome 2 and encephalocele, and has symptoms including ataxia An important gene associated with Joubert Syndrome 14 is TMEM237 (Transmembrane Protein 237), 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 related phenotypes are hypertension and ptosis

Disease Ontology : 12 A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has material basis in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.

OMIM® : 57 Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (614424) (Updated 05-Apr-2021)

Related Diseases for Joubert Syndrome 14

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 2 10.1 TMEM216 B9D2
2 encephalocele 10.0 B9D2 B9D1
3 nephronophthisis 12 10.0 TMEM237 NPHP4 B9D2
4 joubert syndrome 24 10.0 TMEM231 B9D1
5 joubert syndrome 7 9.9 TMEM216 B9D2
6 nephronophthisis 11 9.9 TMEM216 NPHP4
7 joubert syndrome 15 9.9 TMEM237 TMEM231 NPHP4
8 orofaciodigital syndrome iv 9.9 TMEM231 TMEM216
9 nephronophthisis 19 9.9 TMEM216 NPHP4
10 cone-rod dystrophy 16 9.9 TMEM231 B9D1
11 nephronophthisis 1 9.9 NPHP4 B9D2 B9D1
12 ciliopathy 9.9 TMEM231 NPHP4
13 nephronophthisis 9 9.8 TMEM216 NPHP4 B9D2
14 johanson-blizzard syndrome 9.8 TMEM231 TMEM216
15 joubert syndrome 5 9.7 TMEM216 B9D2 B9D1
16 arima syndrome 9.6 TMEM237 TMEM231 TMEM216 NPHP4
17 meckel syndrome, type 8 9.6 TMEM237 TMEM216 B9D2 B9D1
18 joubert syndrome 3 9.6 TMEM216 NPHP4 B9D2 B9D1
19 nephronophthisis 2 9.6 TMEM216 NPHP4 B9D2 B9D1
20 visceral heterotaxy 9.5 TMEM216 NPHP4 B9D2 B9D1
21 spinocerebellar ataxia 29 9.5 TMEM237 TMEM216 B9D2 B9D1
22 short-rib thoracic dysplasia 1 with or without polydactyly 9.5 TMEM237 TMEM231 TMEM216 B9D1
23 orofaciodigital syndrome 9.5 TMEM231 TMEM216 TMEM17 TMEM107
24 polycystic kidney disease 4 with or without polycystic liver disease 9.5 TMEM231 TMEM216 NPHP4 B9D1
25 joubert syndrome 20 9.5 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
26 primary ciliary dyskinesia 9.4 TMEM216 NPHP4 B9D2 B9D1
27 joubert syndrome 4 9.4 TMEM237 TMEM216 NPHP4 B9D2 B9D1
28 kartagener syndrome 9.4 TMEM237 TMEM216 NPHP4 B9D2 B9D1
29 meckel syndrome, type 7 9.4 TMEM237 TMEM231 TMEM216 B9D2 B9D1
30 senior-loken syndrome 1 9.3 TMEM231 TMEM216 NPHP4 B9D2 B9D1
31 bardet-biedl syndrome 9.3 TMEM231 TMEM216 NPHP4 B9D2 B9D1
32 meckel syndrome, type 2 9.2 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
33 meckel syndrome, type 3 9.2 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
34 coach syndrome 1 9.2 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
35 coloboma of macula 9.1 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
36 asphyxiating thoracic dystrophy 9.1 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
37 leber plus disease 9.1 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
38 retinitis pigmentosa 8.9 TMEM231 TMEM216 NPHP4 B9D2 B9D1
39 joubert syndrome 1 8.9 TMEM237 TMEM231 TMEM216 TMEM107 NPHP4 B9D2
40 orofaciodigital syndrome vi 8.9 TMEM80 TMEM237 TMEM231 TMEM216 TMEM17 B9D1
41 fundus dystrophy 8.9 TMEM237 TMEM231 TMEM216 TMEM107 NPHP4 B9D2
42 meckel syndrome, type 4 8.7 TMEM80 TMEM237 TMEM231 TMEM216 NPHP4 B9D2
43 meckel syndrome, type 5 8.7 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107 NPHP4
44 meckel syndrome, type 1 8.7 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107 NPHP4
45 nephronophthisis 8.7 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107 NPHP4
46 meckel syndrome, type 6 8.2 TMEM80 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107

Graphical network of the top 20 diseases related to Joubert Syndrome 14:



Diseases related to Joubert Syndrome 14

Symptoms & Phenotypes for Joubert Syndrome 14

Human phenotypes related to Joubert Syndrome 14:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 frequent (33%) HP:0000822
2 ptosis 31 HP:0000508
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 hydrocephalus 31 HP:0000238
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 intellectual disability, severe 31 HP:0010864
9 strabismus 31 HP:0000486
10 growth delay 31 HP:0001510
11 low-set ears 31 HP:0000369
12 epicanthus 31 HP:0000286
13 irritability 31 HP:0000737
14 downslanted palpebral fissures 31 HP:0000494
15 open mouth 31 HP:0000194
16 microphthalmia 31 HP:0000568
17 dandy-walker malformation 31 HP:0001305
18 highly arched eyebrow 31 HP:0002553
19 deeply set eye 31 HP:0000490
20 malar flattening 31 HP:0000272
21 prominent nasal bridge 31 HP:0000426
22 short philtrum 31 HP:0000322
23 high forehead 31 HP:0000348
24 tented upper lip vermilion 31 HP:0010804
25 encephalocele 31 HP:0002084
26 posteriorly rotated ears 31 HP:0000358
27 renal cyst 31 HP:0000107
28 generalized hypotonia 31 HP:0001290
29 coloboma 31 HP:0000589
30 postaxial polydactyly 31 HP:0100259
31 morning glory anomaly 31 HP:0025514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
microphthalmia
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
open mouth
tented upper lip

Skeletal Hands:
postaxial polydactyly

Genitourinary Kidneys:
renal cysts

Head And Neck Head:
tall forehead

Respiratory:
abnormal breathing pattern

Neurologic Central Nervous System:
ataxia
hydrocephalus
dandy-walker malformation
encephalocele
hypotonia
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Head And Neck Face:
malar flattening
short philtrum

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
high nasal bridge

Growth Other:
poor growth

Cardiovascular Vascular:
hypertension (variable)

Clinical features from OMIM®:

614424 (Updated 05-Apr-2021)

UMLS symptoms related to Joubert Syndrome 14:


ataxia

Drugs & Therapeutics for Joubert Syndrome 14

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 14

Genetic Tests for Joubert Syndrome 14

Genetic tests related to Joubert Syndrome 14:

# Genetic test Affiliating Genes
1 Joubert Syndrome 14 29 TMEM237

Anatomical Context for Joubert Syndrome 14

MalaCards organs/tissues related to Joubert Syndrome 14:

40
Eye

Publications for Joubert Syndrome 14

Articles related to Joubert Syndrome 14:

# Title Authors PMID Year
1
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 57 6
22981120 2012
2
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 6 57
22152675 2011
3
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. 6 57
17603801 2007
4
Joubert-like syndrome unlinked to known candidate loci. 57 6
14760273 2004
5
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 6
26673778 2016
6
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015
7
The Meckel syndrome in the Hutterites. 57
7395917 1980

Variations for Joubert Syndrome 14

ClinVar genetic disease variations for Joubert Syndrome 14:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM237 NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) SNV Pathogenic 31180 rs199469707 GRCh37: 2:202505638-202505638
GRCh38: 2:201640915-201640915
2 TMEM237 NM_001044385.3(TMEM237):c.677+1G>T SNV Pathogenic 31181 rs793888505 GRCh37: 2:202494451-202494451
GRCh38: 2:201629728-201629728
3 TMEM237 NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) Duplication Pathogenic 31182 rs751952525 GRCh37: 2:202490841-202490842
GRCh38: 2:201626118-201626119
4 TMEM237 NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) SNV Pathogenic 31183 rs387907131 GRCh37: 2:202504987-202504987
GRCh38: 2:201640264-201640264
5 TMEM237 NM_001044385.3(TMEM237):c.943+1G>T SNV Pathogenic 31184 rs748510210 GRCh37: 2:202492798-202492798
GRCh38: 2:201628075-201628075
6 overlap with 3 genes NC_000002.12:g.(?_201618900)_(201647825_?)del Deletion Pathogenic 584058 GRCh37: 2:202483623-202512548
GRCh38: 2:201618900-201647825
7 TMEM237 NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) SNV Pathogenic 647195 rs775449384 GRCh37: 2:202492841-202492841
GRCh38: 2:201628118-201628118
8 TMEM237 NM_001044385.3(TMEM237):c.677+1G>A SNV Pathogenic 654117 rs793888505 GRCh37: 2:202494451-202494451
GRCh38: 2:201629728-201629728
9 TMEM237 NM_001044385.3(TMEM237):c.275-2A>G SNV Pathogenic 692024 rs1574582671 GRCh37: 2:202498156-202498156
GRCh38: 2:201633433-201633433
10 TMEM237 NM_001044385.3(TMEM237):c.553+1G>A SNV Pathogenic 841287 GRCh37: 2:202496773-202496773
GRCh38: 2:201632050-201632050
11 TMEM237 NM_001044385.3(TMEM237):c.136+1G>T SNV Likely pathogenic 934111 GRCh37: 2:202503711-202503711
GRCh38: 2:201638988-201638988
12 TMEM237 NM_001044385.3(TMEM237):c.869+1G>A SNV Likely pathogenic 183328 rs730882231 GRCh37: 2:202493952-202493952
GRCh38: 2:201629229-201629229
13 TMEM237 NM_001044385.3(TMEM237):c.80-2A>G SNV Likely pathogenic 635032 rs1445957469 GRCh37: 2:202503770-202503770
GRCh38: 2:201639047-201639047
14 TMEM237 NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) SNV Likely pathogenic 635033 rs972221242 GRCh37: 2:202496909-202496909
GRCh38: 2:201632186-201632186
15 TMEM237 NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) SNV Conflicting interpretations of pathogenicity 957799 GRCh37: 2:202508123-202508123
GRCh38: 2:201643400-201643400
16 TMEM237 NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) SNV Conflicting interpretations of pathogenicity 198116 rs191125006 GRCh37: 2:202498081-202498081
GRCh38: 2:201633358-201633358
17 TMEM237 NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) SNV Conflicting interpretations of pathogenicity 373720 rs200714434 GRCh37: 2:202503751-202503751
GRCh38: 2:201639028-201639028
18 TMEM237 NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) SNV Conflicting interpretations of pathogenicity 783168 rs372100073 GRCh37: 2:202501562-202501562
GRCh38: 2:201636839-201636839
19 TMEM237 NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) SNV Conflicting interpretations of pathogenicity 212405 rs149240122 GRCh37: 2:202490843-202490843
GRCh38: 2:201626120-201626120
20 TMEM237 NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) SNV Conflicting interpretations of pathogenicity 766812 rs199500256 GRCh37: 2:202496852-202496852
GRCh38: 2:201632129-201632129
21 TMEM237 NM_001044385.3(TMEM237):c.*1436G>T SNV Uncertain significance 895903 GRCh37: 2:202487542-202487542
GRCh38: 2:201622819-201622819
22 TMEM237 NM_001044385.3(TMEM237):c.*1382C>T SNV Uncertain significance 895904 GRCh37: 2:202487596-202487596
GRCh38: 2:201622873-201622873
23 TMEM237 NM_001044385.3(TMEM237):c.*1330C>T SNV Uncertain significance 895905 GRCh37: 2:202487648-202487648
GRCh38: 2:201622925-201622925
24 TMEM237 NM_001044385.3(TMEM237):c.*2495C>G SNV Uncertain significance 896114 GRCh37: 2:202486483-202486483
GRCh38: 2:201621760-201621760
25 TMEM237 NM_001044385.3(TMEM237):c.*2448C>A SNV Uncertain significance 896115 GRCh37: 2:202486530-202486530
GRCh38: 2:201621807-201621807
26 TMEM237 NM_001044385.3(TMEM237):c.*2307A>G SNV Uncertain significance 896117 GRCh37: 2:202486671-202486671
GRCh38: 2:201621948-201621948
27 TMEM237 NM_001044385.3(TMEM237):c.*1148A>G SNV Uncertain significance 896184 GRCh37: 2:202487830-202487830
GRCh38: 2:201623107-201623107
28 TMEM237 NM_001044385.3(TMEM237):c.*1008A>G SNV Uncertain significance 896185 GRCh37: 2:202487970-202487970
GRCh38: 2:201623247-201623247
29 TMEM237 NM_001044385.3(TMEM237):c.*969A>G SNV Uncertain significance 896186 GRCh37: 2:202488009-202488009
GRCh38: 2:201623286-201623286
30 TMEM237 NM_001044385.3(TMEM237):c.*962A>C SNV Uncertain significance 896187 GRCh37: 2:202488016-202488016
GRCh38: 2:201623293-201623293
31 TMEM237 NM_001044385.3(TMEM237):c.*940A>C SNV Uncertain significance 896188 GRCh37: 2:202488038-202488038
GRCh38: 2:201623315-201623315
32 TMEM237 NM_001044385.3(TMEM237):c.396-13G>A SNV Uncertain significance 896253 GRCh37: 2:202496944-202496944
GRCh38: 2:201632221-201632221
33 TMEM237 NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) SNV Uncertain significance 896254 GRCh37: 2:202501588-202501588
GRCh38: 2:201636865-201636865
34 TMEM237 NM_001044385.3(TMEM237):c.*3997A>G SNV Uncertain significance 897636 GRCh37: 2:202484981-202484981
GRCh38: 2:201620258-201620258
35 TMEM237 NM_001044385.3(TMEM237):c.*3992A>G SNV Uncertain significance 897637 GRCh37: 2:202484986-202484986
GRCh38: 2:201620263-201620263
36 TMEM237 NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) SNV Uncertain significance 286536 rs200531617 GRCh37: 2:202496888-202496888
GRCh38: 2:201632165-201632165
37 TMEM237 NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) SNV Uncertain significance 864364 GRCh37: 2:202501519-202501519
GRCh38: 2:201636796-201636796
38 TMEM237 NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) SNV Uncertain significance 894802 GRCh37: 2:202492867-202492867
GRCh38: 2:201628144-201628144
39 TMEM237 NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) SNV Uncertain significance 894803 GRCh37: 2:202496781-202496781
GRCh38: 2:201632058-201632058
40 TMEM237 NM_001044385.3(TMEM237):c.*2964T>A SNV Uncertain significance 895839 GRCh37: 2:202486014-202486014
GRCh38: 2:201621291-201621291
41 TMEM237 NM_001044385.3(TMEM237):c.*2670C>T SNV Uncertain significance 895840 GRCh37: 2:202486308-202486308
GRCh38: 2:201621585-201621585
42 TMEM237 NM_001044385.3(TMEM237):c.*2652A>G SNV Uncertain significance 895841 GRCh37: 2:202486326-202486326
GRCh38: 2:201621603-201621603
43 TMEM237 NM_001044385.3(TMEM237):c.*2626T>C SNV Uncertain significance 895842 GRCh37: 2:202486352-202486352
GRCh38: 2:201621629-201621629
44 TMEM237 NM_001044385.3(TMEM237):c.*1560C>T SNV Uncertain significance 895901 GRCh37: 2:202487418-202487418
GRCh38: 2:201622695-201622695
45 TMEM237 NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) SNV Uncertain significance 645015 rs999613520 GRCh37: 2:202501576-202501576
GRCh38: 2:201636853-201636853
46 TMEM237 NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) SNV Uncertain significance 333562 rs886055448 GRCh37: 2:202494086-202494086
GRCh38: 2:201629363-201629363
47 TMEM237 NM_001044385.3(TMEM237):c.554-2_554-1insT Insertion Uncertain significance 225492 rs1085307098 GRCh37: 2:202494576-202494577
GRCh38: 2:201629853-201629854
48 TMEM237 NM_001044385.3(TMEM237):c.-59G>A SNV Uncertain significance 333566 rs886055449 GRCh37: 2:202508182-202508182
GRCh38: 2:201643459-201643459
49 TMEM237 NM_001044385.3(TMEM237):c.*1108A>G SNV Uncertain significance 333551 rs758086204 GRCh37: 2:202487870-202487870
GRCh38: 2:201623147-201623147
50 TMEM237 NM_001044385.3(TMEM237):c.*1378A>G SNV Uncertain significance 333548 rs886055443 GRCh37: 2:202487600-202487600
GRCh38: 2:201622877-201622877

Expression for Joubert Syndrome 14

Search GEO for disease gene expression data for Joubert Syndrome 14.

Pathways for Joubert Syndrome 14

GO Terms for Joubert Syndrome 14

Cellular components related to Joubert Syndrome 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 TMEM80 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107
2 cilium GO:0005929 9.76 TMEM80 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107
3 ciliary basal body GO:0036064 9.5 NPHP4 B9D2 B9D1
4 MKS complex GO:0036038 9.43 TMEM231 TMEM216 TMEM17 TMEM107 B9D2 B9D1
5 ciliary membrane GO:0060170 9.4 TMEM231 TMEM17
6 photoreceptor connecting cilium GO:0032391 9.37 TMEM237 NPHP4
7 ciliary transition zone GO:0035869 9.28 TMEM80 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107

Biological processes related to Joubert Syndrome 14 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.56 TMEM216 NPHP4 B9D2 B9D1
2 smoothened signaling pathway GO:0007224 9.54 TMEM231 TMEM17 B9D1
3 embryonic digit morphogenesis GO:0042733 9.5 TMEM231 TMEM107 B9D1
4 cilium assembly GO:0060271 9.5 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107 B9D2
5 regulation of protein localization GO:0032880 9.49 TMEM231 B9D1
6 camera-type eye development GO:0043010 9.48 TMEM231 B9D1
7 vasculature development GO:0001944 9.46 TMEM231 B9D1
8 non-motile cilium assembly GO:1905515 9.46 TMEM80 TMEM216 TMEM17 TMEM107
9 neuroepithelial cell differentiation GO:0060563 9.43 TMEM231 B9D1
10 protein localization to ciliary transition zone GO:1904491 9.4 TMEM107 NPHP4
11 cell projection organization GO:0030030 9.17 TMEM237 TMEM231 TMEM216 TMEM17 TMEM107 B9D2

Sources for Joubert Syndrome 14

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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