Gene: TMEM67 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775883520
rs775883520
TMEM67
0.710 GeneticVariation BEFREE We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. 28719906

2017
dbSNP: rs775883520
rs775883520
TMEM67
G 0.710 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906

2017
dbSNP: rs775883520
rs775883520
TMEM67
G 0.710 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386834202
rs386834202
TMEM67
C 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: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 26035863

2015
dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 26035863

2015
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs137853108
rs137853108
TMEM67
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128

2011
dbSNP: rs267607119
rs267607119
TMEM67
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128

2011
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 CausalMutation CLINVAR Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301

2010
dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010
dbSNP: rs386834185
rs386834185
TMEM67
C 0.700 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010