TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease BEFREE Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. 30705305 2019
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease BEFREE Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber syndrome, type 3) were reported to cause COACH syndrome, this causality has not verified by functional studies. 28860541 2017
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease BEFREE A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 26191240 2015
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease BEFREE In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. 24039893 2013
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease UNIPROT Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449 2010
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 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: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease BEFREE Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. 19211713 2009
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease UNIPROT The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 CausalMutation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease UNIPROT Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease UNIPROT The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease RGD The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease GENOMICS_ENGLAND [Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)]. 613550 1977
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease CLINVAR
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease CTD_human