Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation 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: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. 22004014 2012
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 21081970 2011
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease CLINVAR Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. 21850185 2011
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. 21854771 2011
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 19643970 2010
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 18470941 2008
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 18537981 2008
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. 16490498 2006
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Primary role of CYP1B1 in Indian juvenile-onset POAG patients. 16688110 2006
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. 16862072 2006
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. 16735994 2006
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. 15037581 2004
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 15342693 2004
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 15255109 2004
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 15255109 2004
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. 15475877 2004
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. 14640114 2003
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. 12525557 2003
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. 14635112 2003
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 11774072 2002
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 Biomarker disease GENOMICS_ENGLAND A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 12372064 2002
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. 11980847 2002
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Molecular genetics of primary congenital glaucoma in Brazil. 12036985 2002
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. 11527932 2001