| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.430 | GeneticVariation | 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 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. | 21866095 | 2011 | ||||
|
0.430 | Biomarker | disease | GENOMICS_ENGLAND | Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. | 20607301 | 2010 | ||||
|
0.430 | GeneticVariation | disease | BEFREE | Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). | 19508969 | 2009 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). | 19508969 | 2009 | ||||
|
0.430 | Biomarker | disease | GENOMICS_ENGLAND | Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). | 19508969 | 2009 | ||||
|
0.430 | Biomarker | disease | GENOMICS_ENGLAND | Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. | 18327255 | 2008 | ||||
|
0.430 | GeneticVariation | disease | BEFREE | Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. | 17960139 | 2007 | ||||
|
0.430 | Biomarker | disease | GENOMICS_ENGLAND | The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. | 16415887 | 2006 | ||||
|
0.430 | Biomarker | disease | HPO | |||||||
|
0.430 | GeneticVariation | disease | CLINVAR |