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: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.400 GermlineCausalMutation ORPHANET Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.400 GermlineCausalMutation ORPHANET Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042

2012