×
Entrez Id:
403
Gene Symbol:
ARL3
ARL3
0.300
Biomarker
disease
GENOMICS_ENGLAND
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
30269812
2018
×
Entrez Id:
9731
Gene Symbol:
CEP104
CEP104
0.300
Biomarker
disease
GENOMICS_ENGLAND
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
KIAA0586
0.300
Biomarker
disease
GENOMICS_ENGLAND
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
26437029
2015
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
0.300
Biomarker
disease
GENOMICS_ENGLAND
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
16453322
2006
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
29321670
2018
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
CLINVAR
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
29321670
2018
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
CLINVAR
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
28431631
2017
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
28431631
2017
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
28125082
2017
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
28289185
2017
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Molecular genetic analysis of 30 families with Joubert syndrome.
27434533
2016
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
Biomarker
disease
GENOMICS_ENGLAND
Joubert syndrome: genotyping a Northern European patient cohort.
25920555
2016
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Joubert syndrome: genotyping a Northern European patient cohort.
25920555
2016
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
CLINVAR
Molecular genetic analysis of 30 families with Joubert syndrome.
27434533
2016
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
25407461
2015
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
Biomarker
disease
MGD
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
25877302
2015
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
CLINVAR
C5orf42 is the major gene responsible for OFD syndrome type VI.
24178751
2014
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
Biomarker
disease
GENOMICS_ENGLAND
C5orf42 is the major gene responsible for OFD syndrome type VI.
24178751
2014
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
C5orf42 is the major gene responsible for OFD syndrome type VI.
24178751
2014
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
CLINVAR
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
24091540
2013
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
CausalMutation
disease
CLINVAR
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
24091540
2013
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
0.800
GeneticVariation
disease
UNIPROT
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
23012439
2012