Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs762543032
rs762543032
TMEM67
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164

2011
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs762543032
rs762543032
TMEM67
0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007