Disease: OROFACIODIGITAL SYNDROME VI ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231261
rs606231261
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs606231261
rs606231261
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		G 0.800 CausalMutation CLINVAR