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: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease BEFREE Overall, TMEM67 showed one of the widest clinical continuum observed in ciliopathies ranging from early lethality to adults with liver fibrosis. 29891882 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 GeneticVariation disease BEFREE Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. 26035863 2015
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease BEFREE The Tmem67(tm1(Dgen/H)) line is unique in modelling the variable expressivity of phenotypes in these two ciliopathies. 23283079 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 GeneticVariation disease BEFREE TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology of the disease is not well understood. 23393159 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease BEFREE To identify disease-causing mutations within coding regions of 11 known NPHP genes (NPHP1-NPHP11) in a cohort of 192 patients diagnosed with a nephronophthisis-associated ciliopathy, at low cost. 23188109 2012
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease BEFREE Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to the primary cilia-centrosome complex, support the unifying concept that cystic kidney diseases are "ciliopathies". 20179356 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 GeneticVariation disease BEFREE Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease BEFREE These studies demonstrate that MKS1 and MKS3 are ciliopathies, with new cilia-related eye and sperm phenotypes defined. 19515853 2009
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease BEFREE Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). 17705300 2008
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease GENOMICS_ENGLAND