| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | group | BEFREE | Mutations in phospholipase C ε‑1 (PLCE1) have been reported as a cause of early onset NS characterized by histology of diffuse mesangial sclerosis. | 30280192 | 2018 | ||||
|
0.170 | GeneticVariation | group | BEFREE | In order to better assess the spectrum of phenotypes associated with PLCE1 mutations, mutational analysis was performed in a worldwide cohort of 139 patients (95 familial cases belonging to 68 families and 44 sporadic cases) with steroid resistant NS presenting at a median age of 23.0 months (range 0-373). | 20591883 | 2010 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic syndrome characterized by diffuse mesangial sclerosis (DMS) histology. | 18975016 | 2009 | ||||
|
0.170 | Biomarker | group | LHGDN | To further elucidate the mechanism by which PLCE1 mutations cause nephrotic syndrome, we sought to identify new protein interaction partners of PLCepsilon1. | 17942568 | 2008 | ||||
|
0.170 | GeneticVariation | group | LHGDN | NPHS3: new clues for understanding idiopathic nephrotic syndrome. | 18270750 | 2008 | ||||
|
0.170 | GeneticVariation | group | BEFREE | To further elucidate the mechanism by which PLCE1 mutations cause nephrotic syndrome, we sought to identify new protein interaction partners of PLCepsilon1. | 17942568 | 2008 | ||||
|
0.170 | GeneticVariation | group | LHGDN | Familial nephrotic syndrome: PLCE1 enters the fray. | 17449496 | 2007 | ||||
|
0.170 | Biomarker | group | BEFREE | These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotic syndrome. | 17086182 | 2006 | ||||
|
0.170 | Biomarker | group | HPO | |||||||
|
0.170 | CausalMutation | group | CLINVAR |