Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139675596
rs139675596
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs139675596
rs139675596
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012