Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.800 Biomarker disease GENOMICS_ENGLAND
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 GeneticVariation disease UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.800 GeneticVariation disease CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.800 CausalMutation disease CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.800 GeneticVariation disease UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
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 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 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 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 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 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 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: 9786
Gene Symbol: KIAA0586
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: 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: 9731
Gene Symbol: CEP104
CEP104 		0.300 Biomarker disease GENOMICS_ENGLAND 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 Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 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 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