| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | GermlineCausalMutation | disease | ORPHANET | Review and update on the molecular basis of Leber congenital amaurosis. | 25685757 | 2015 | ||||
|
0.630 | GeneticVariation | disease | BEFREE | We successfully identified causative mutations in patients from the Chinese families with RDS: the known mutation IMPDH1 c.942_944delGAA in a family with retinitis pigmentosa, the novel mutation ABCA4 c.1924T>A in a family with Stargardt disease, and the novel mutation NMNAT1 c.272A>G and known mutation NMNAT1 c.196C>T in a family with Leber congenital amaurosis. | 24791140 | 2014 | ||||
|
0.630 | Biomarker | disease | CTD_human | The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA). | 16384941 | 2006 | ||||
|
0.630 | GeneticVariation | disease | BEFREE | The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA). | 16384941 | 2006 | ||||
|
0.630 | GermlineCausalMutation | disease | ORPHANET | The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA). | 16384941 | 2006 | ||||
|
0.630 | GeneticVariation | disease | BEFREE | Mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP) and are a rare cause of dominant Leber congenital amaurosis (LCA). | 16936083 | 2006 | ||||
|
0.630 | Biomarker | disease | GENOMICS_ENGLAND |