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: rs606231259
rs606231259
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.700 CausalMutation CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185 2017
dbSNP: rs606231259
rs606231259
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
dbSNP: rs606231259
rs606231259
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs606231259
rs606231259
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014