Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker GENOMICS_ENGLAND Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker GENOMICS_ENGLAND Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker 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
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.690 Biomarker GENOMICS_ENGLAND Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS. 22425360

2012