Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		disease 0.720 None 1.000 6 13 2010 2017
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		disease 0.710 None 1.000 4 10 2010 2014
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.410 None 1.000 7 3 2010 2017
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 3 1 2010 2015
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 3 1 2010 2015