Source: ORPHANET

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

2012