| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. | 26035863 | 2015 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. | 20232449 | 2010 | ||||
|
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 | ||||
|
0.390 | Biomarker | disease | BEFREE | Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). | 17705300 | 2008 | ||||
|
0.390 | Biomarker | disease | GENOMICS_ENGLAND |