Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 15954103

2005
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. 12436246

2002
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Alport syndrome: impact of digenic inheritance in patients management. 27859054

2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 Biomarker GENOMICS_ENGLAND The clinical spectrum of type IV collagen mutations. 9195222

1997
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT Mutational analysis of COL4A5 gene in Korean Alport syndrome. 10684360

2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 11223851

2001
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation CLINVAR Genotype-phenotype correlation in X-linked Alport syndrome. 20378821

2010
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. 27725546

2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 Biomarker MGD Mechanical response of wild-type and Alport murine lens capsules during osmotic swelling. 23707242

2013
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. 10563487

1999
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation CLINVAR Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. 26934356

2016
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation CLINVAR Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 8940267

1996
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 18616531

2008
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Molecular testing for adult type Alport syndrome. 19919694

2009