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 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 Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 11223851 2001
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 11223851 2001
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 CausalMutation 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 CausalMutation disease CLINVAR Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. 28013382 2017
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 CLINVAR Genotype-phenotype correlation in X-linked Alport syndrome. 20378821 2010
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Genotype-phenotype correlation in X-linked Alport syndrome. 20378821 2010
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. 9848783 1998
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. 9848783 1998
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. 9848783 1998
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. 26809805 2016
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. 26809805 2016
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 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 GeneticVariation disease UNIPROT Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. 8406498 1993
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 CLINVAR Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. 12105244 2002
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. 12105244 2002
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. 24304881 2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome. 9452056 1998
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