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: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		disease 0.950 None 1.000 7 0 1977 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		disease 0.900 None 1.000 6 0 1977 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease 0.740 None 1.000 7 0 1977 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		disease 0.710 None 1.000 7 0 1977 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.680 None 1.000 4 0 2002 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		disease 0.600 None 1.000 3 0 1977 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		disease 0.510 strong 1.000 0 0 2018 2018
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.430 None 1.000 4 0 2006 2012
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		disease 0.410 None 1.000 2 0 2009 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.400 None 1.000 4 0 2002 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.390 None 1.000 0 0 2008 2018
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.320 strong 1.000 0 0 2002 2007
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0