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 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 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 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 28570636

2017
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 CausalMutation 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 CausalMutation CLINVAR X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. 26581810

2016
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 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 CausalMutation 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
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 CausalMutation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. 26168235

2015
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 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 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 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 A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. 24337245

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 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 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 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 CausalMutation CLINVAR Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 23732293

2013
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 c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family. 23085274

2013
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. 21332469

2012
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 CausalMutation CLINVAR Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome. 22921432

2012
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 detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China. 21143337

2011