Disease: Joubert syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225201
rs863225201
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015