Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 GeneticVariation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631 2017
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631 2017
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 2016
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 2016
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 GeneticVariation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013