TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 GermlineCausalMutation disease ORPHANET The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906 2007