Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.300 Biomarker GENOMICS_ENGLAND Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.300 Biomarker GENOMICS_ENGLAND Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350

2010