Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker GENOMICS_ENGLAND Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker GENOMICS_ENGLAND Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 19508969

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255

2008
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887

2006