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: rs201108965
rs201108965
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
dbSNP: rs201108965
rs201108965
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: rs201108965
rs201108965
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
dbSNP: rs201108965
rs201108965
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350 2010
dbSNP: rs201108965
rs201108965
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