Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation ORPHANET Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010