Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease BEFREE To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome. 28860541 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease UNIPROT To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome. 28860541 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease 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 		0.740 GermlineCausalMutation disease ORPHANET Joubert Syndrome and related disorders. 20615230 2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease BEFREE 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. 19574260 2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease UNIPROT 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. 19574260 2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GermlineCausalMutation disease ORPHANET 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. 19574260 2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease BEFREE At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. 19876931 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease GENOMICS_ENGLAND MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease BEFREE MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease UNIPROT MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GermlineCausalMutation disease ORPHANET The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906 2007
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 GeneticVariation disease CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550 1977
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 CausalMutation disease CLINVAR
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.740 Biomarker disease CTD_human
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		0.710 Biomarker disease GENOMICS_ENGLAND Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. 27959436 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		0.710 Biomarker disease GENOMICS_ENGLAND CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		0.710 GermlineCausalMutation disease ORPHANET Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260 2010
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.710 GeneticVariation disease BEFREE Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260 2010