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 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 1672282

1991
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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 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
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 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 Biomarker 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 Biomarker CTD_human

Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 Biomarker MGD Mouse model of X-linked Alport syndrome. 15153557

2004
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 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 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 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 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 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
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network. 8648925

1996