TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
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 		0.410 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 CausalMutation disease CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 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 		0.410 CausalMutation disease CLINVAR Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 CausalMutation disease CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 CausalMutation disease CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 GeneticVariation disease CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 GeneticVariation disease BEFREE Given the small size of the TMEM216 gene relative to other JBTS genes, its sequence analysis is warranted in all JBTS patients, especially those who suffer from associated anomalies. 20036350 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 CausalMutation disease CLINVAR Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 Biomarker disease HPO