Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554117456
rs1554117456
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
dbSNP: rs1554117456
rs1554117456
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
dbSNP: rs1554117456
rs1554117456
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
dbSNP: rs1554117456
rs1554117456
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
dbSNP: rs1554117456
rs1554117456
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 22236771 2012
dbSNP: rs1554117456
rs1554117456
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. 21679365 2011