rs749523755, CPLANE1

N. diseases: 4
Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015