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: rs749523755
rs749523755
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs749523755
rs749523755
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		T 0.700 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015