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 Biomarker disease CTD_human
Entrez Id: 27235
Gene Symbol: COQ2
COQ2 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR "Alport retinopathy results from ""severe"" COL4A5 mutations and predicts early renal failure." 19965530 2010
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 Biomarker disease GENOMICS_ENGLAND "X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a ""European Community Alport Syndrome Concerted Action"" study." 14514738 2003
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. 24337245 2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. 8651292 1996
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. 8081393 1994
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 A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. 26168235 2015
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. 26866448 2016
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 16941480 2006
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 28570636 2017
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 CausalMutation disease CLINVAR Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. 25307721 2015
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 9150741 1997
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 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 Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. 7599631 1995
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. 7599631 1995
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Detection of mutations in COL4A5 in patients with Alport syndrome. 10094548 1999
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Detection of mutations in COL4A5 in patients with Alport syndrome. 10094548 1999
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. 15780079 2005
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. 11462238 2001
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. 10561141 1999
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. 10561141 1999