Gene: COL4A5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. 1598909 1992
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene. 11004279 2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 15954103 2005
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 17396119 2007
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. 12436246 2002
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Alport syndrome: impact of digenic inheritance in patients management. 27859054 2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 8651296 1996
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 Biomarker disease GENOMICS_ENGLAND The clinical spectrum of type IV collagen mutations. 9195222 1997
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Mutational analysis of COL4A5 gene in Korean Alport syndrome. 10684360 2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 11223851 2001
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 24033287 2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. 1352287 1992
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR Genotype-phenotype correlation in X-linked Alport syndrome. 20378821 2010
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. 27725546 2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265 2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 Biomarker disease MGD Mechanical response of wild-type and Alport murine lens capsules during osmotic swelling. 23707242 2013
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. 10563487 1999
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. 1363780 1992
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome. 8829632 1996
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. 26934356 2016
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 8940267 1996
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. 17660027 2007
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658 2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 18616531 2008
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Molecular testing for adult type Alport syndrome. 19919694 2009