TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: MECKEL SYNDROME, TYPE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833830
rs386833830
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C1864148
Disease:
MECKEL SYNDROME, TYPE 2 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: Meckel syndrome. 21368913 2011
dbSNP: rs386833830
rs386833830
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C1864148
Disease:
MECKEL SYNDROME, TYPE 2 		0.700 GeneticVariation UNIPROT Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010