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 Biomarker disease GENOMICS_ENGLAND
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 Biomarker disease CTD_human
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 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: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 Biomarker disease GENOMICS_ENGLAND 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: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. 9497261 1998
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 Biomarker disease GENOMICS_ENGLAND Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. 9497261 1998
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 9463332 1998
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 10227395 1999
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 10655546 2000
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 GeneticVariation disease UNIPROT Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma. 11184479 2000
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
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.700 CausalMutation disease CLINVAR Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. 11403040 2001
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 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 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 Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. 16490498 2006