Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 GeneticVariation disease UNIPROT Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. 16936096 2006
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease CTD_human Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. 15378534 2004
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 GeneticVariation disease UNIPROT Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. 12381896 2003
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease CTD_human Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. 14630904 2003
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease CTD_human Pitx2, a paired-related homeobox gene that encodes multiple isoforms, is the gene mutated in the haploinsufficient Rieger Syndrome type 1 that includes dental, ocular and abdominal wall anomalies as cardinal features. 14623826 2003
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease GENOMICS_ENGLAND Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 11487566 2001
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 GeneticVariation disease UNIPROT Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 11487566 2001
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 GeneticVariation disease UNIPROT Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. 10937553 2000
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease CTD_human Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis. 10502778 1999
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease CTD_human The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms. 10644443 1999
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease GENOMICS_ENGLAND Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 8944018 1996
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 GeneticVariation disease UNIPROT Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 8944018 1996
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.910 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.300 Biomarker disease CTD_human Ophthalmological features associated with COL4A1 mutations. 20385946 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.300 Biomarker disease CTD_human COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175 2007
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 Biomarker disease CTD_human Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. 14630904 2003
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.300 Biomarker disease CTD_human Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. 14630904 2003