Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
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
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
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
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
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
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185 2017
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 2016
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 2016
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
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
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 Biomarker disease GENOMICS_ENGLAND C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 GeneticVariation disease CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
0.800 CausalMutation disease CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012