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 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 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 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 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 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 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 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 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 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 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 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 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 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 GeneticVariation disease BEFREE This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected. 11774072 2002
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 Biomarker disease HPO
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 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 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 [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 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 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