CYP1B1-AS1, CYP1B1 antisense RNA 1, 285154

N. diseases: 12; N. variants: 43
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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 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 		0.100 CausalMutation disease CLINVAR Molecular genetics of primary congenital glaucoma in Brazil. 12036985 2002
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.100 CausalMutation disease CLINVAR Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. 11403040 2001
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.100 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