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 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 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 CausalMutation disease CLINVAR Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. 27272408 2016
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 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 Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. 25950505 2015
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 [Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report]. 25109919 2014
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 Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. 23922489 2013
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. 23218183 2013
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 GeneticVariation disease BEFREE Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. 23218183 2013
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 SusceptibilityMutation disease ORPHANET Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma. 22878448 2012
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 CausalMutation disease CLINVAR Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. 22004014 2012
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 Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. 21854771 2011
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 GeneticVariation disease BEFREE The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations. 21596299 2011
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 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 Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. 19247456 2009
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.450 Biomarker disease BEFREE Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. 19668597 2009
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