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: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		disease 0.600 None 1.000 3 0 2012 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		disease 0.600 None 1.000 2 0 2012 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		disease 0.500 None 1.000 0 0 2012 2012
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.430 limited 1.000 2 0 2012 2019
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 None 0 0
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.330 None 1.000 2 0 2012 2019
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.310 None 1.000 0 0 2013 2013