TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: COACH syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 GermlineCausalMutation disease ORPHANET Joubert Syndrome and related disorders. 20615230 2010
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 GermlineCausalMutation disease ORPHANET The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906 2007
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 GeneticVariation disease CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550 1977
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 CausalMutation disease CLINVAR
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 Biomarker disease CTD_human