TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: Arima syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350 2010