Disease: Glaucoma of childhood ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 Biomarker disease HPO
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 12372064 2002
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. 27777502 2016
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 GeneticVariation disease BEFREE Classification of the developmental corneal opacity phenotype in infantile glaucoma patients with CYP1B1 mutations. 21600657 2011
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. 18414103 2008
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 17591938 2007
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 15342693 2004
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. 27820421 2016
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 19234632 2009
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 23218701 2013
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. 21600657 2011
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 24281366 2014
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases. 27243976 2016
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 18537981 2008
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. 28448622 2017
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 19643970 2010
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 SusceptibilityMutation disease ORPHANET Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 19643970 2010
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 10227395 1999
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. 25091052 2015
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. 9097971 1997
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. 19247456 2009
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 21081970 2011
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by human CYP1B1 genetic variants. 18227148 2008
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. 17164573 2007
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Molecular genetics of primary congenital glaucoma in Brazil. 12036985 2002