Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). 29961766 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker disease BEFREE JBTS17 is a major gene mutated in ciliopathies such as Joubert syndrome and oral-facial-digital syndrome type VI. 31004438 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE We gathered and compared 46 biallelic CPLANE1 mutations reported in 32 JS and 26 OFD6 patients. 29605658 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE The morphological neuroimaging findings in C5orf42-mutant JBTS were distinctly mild and made diagnosis difficult. 28431631 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. 25407461 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE In a subsequent study C5orf42 was found to be mutated in only 2 out of 17 OFDVI probands while 28 patients with a pure JS phenotype also had pathogenic mutations of C5orf42. 25846457 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies. 24178751 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker disease GENOMICS_ENGLAND C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies. 24178751 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker disease BEFREE Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker disease GENOMICS_ENGLAND Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS. 22425360 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GermlineCausalMutation disease ORPHANET Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease BEFREE Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS. 22425360 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GermlineCausalMutation disease ORPHANET Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS. 22425360 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 GeneticVariation disease CLINVAR