Source: GENOMICS_ENGLAND

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 2 0 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 1 0 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 1 0 2010 2017
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.310 None 1.000 2 0 2010 2010
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.310 None 1.000 0 0 2012 2012
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		disease 0.300 None 1.000 2 0 2010 2010
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0