rs386834180, TMEM67

N. diseases: 8
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329 2016
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
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
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449 2010
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007