Disease: JOUBERT SYNDROME 9 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200407856
rs200407856
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease:
JOUBERT SYNDROME 9 (disorder) 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015