Disease: Primary congenital glaucoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
0.060 GeneticVariation BEFREE Two variants which had not been previously related to PCG in Brazil (c.182G>A, c.241T>A) were identified. 30520782 2019
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
0.060 GeneticVariation BEFREE Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma. 26164761 2015
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
0.060 GeneticVariation BEFREE This study confirms that CYP1B1 mutations are the most frequent cause of PCG in the Saudi population, with p.Gly61Glu being the major disease-associated mutation. 25261878 2014
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
0.060 GeneticVariation BEFREE CYP1B1 mutations are the predominant cause of PCG in the Saudi Arabian population with G61E as the dominant disease-associated allele. 22128238 2011
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
0.060 GeneticVariation BEFREE Three CYP1B1 mutations were identified in 5 PCG patients (45.4%) of which 2 were novel (homozygous E173K and heterozygous N498D) and the third (G61E) had previously been reported. 17224759 2007
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
0.060 GeneticVariation BEFREE Typing 4339delG and G61E mutations should help to prevent blindness resulting from a delayed diagnosis of PCG in Morocco. 12372064 2002