Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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: rs201893408
rs201893408
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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: rs201893408
rs201893408
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301

2010
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 19540516

2009
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 GeneticVariation CLINVAR