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: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.800 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: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.800 CausalMutation CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533 2016
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs375009168
rs375009168
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
dbSNP: rs375009168
rs375009168
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 27081551 2015
dbSNP: rs869312898
rs869312898
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
dbSNP: rs869312898
rs869312898
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		C 0.800 GeneticVariation CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
dbSNP: rs869312898
rs869312898
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 27081551 2015
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.800 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
dbSNP: rs375009168
rs375009168
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
dbSNP: rs869312898
rs869312898
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.800 GeneticVariation UNIPROT C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
dbSNP: rs149170427
rs149170427
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.800 CausalMutation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
dbSNP: rs367543061
rs367543061
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
dbSNP: rs149170427
rs149170427
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: rs375009168
rs375009168
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 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs869312898
rs869312898
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: rs375009168
rs375009168
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		A 0.800 CausalMutation CLINVAR
dbSNP: rs606231261
rs606231261
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		G 0.800 CausalMutation CLINVAR
dbSNP: rs300053
rs300053
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs1554084360
rs1554084360
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		C 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
dbSNP: rs200444162
rs200444162
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		T 0.700 GeneticVariation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
dbSNP: rs606231259
rs606231259
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		A 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018