TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11230683
rs11230683
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
dbSNP: rs11230683
rs11230683
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs11230683
rs11230683
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400 2012
dbSNP: rs11230683
rs11230683
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010