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: 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 1 35 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 11 47 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 1 12 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 0 6 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 18 12 2002 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		disease 0.630 None 1.000 18 12 2002 2019
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 0 4 1977 2015
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 2 4 2006 2012
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.320 None 1.000 1 2 2006 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.120 None 1.000 0 2 2015 2018
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 10 1 1999 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 2 1999 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 10 2 1999 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 10 2 1999 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 1.000 2 1 1999 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.100 None 1.000 2 1 1999 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 1.000 1 6 2009 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.100 None 1.000 1 2 2006 2006
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0031154
Disease: Peritonitis
Peritonitis 		disease 0.100 None 0 2
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 2
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		disease 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		phenotype 0.100 None 0 2