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: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012