Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.630 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.630 GermlineCausalMutation 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