Gene: COL4A5 ×
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 Detection of mutations in COL4A5 in patients with Alport syndrome. 10094548 1999
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 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 GeneticVariation disease UNIPROT Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. 10862091 2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network. 8648925 1996
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR The clinical spectrum of type IV collagen mutations. 9195222 1997
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 GeneticVariation disease CLINVAR 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 		0.900 CausalMutation disease CLINVAR Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. 10862091 2000
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 UNIPROT Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 8940267 1996
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 Genotype-phenotype correlation in X-linked Alport syndrome. 20378821 2010
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 "Alport retinopathy results from ""severe"" COL4A5 mutations and predicts early renal failure." 19965530 2010
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 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 UNIPROT Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. 7853788 1994
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease 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 		0.900 GeneticVariation disease UNIPROT Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. 1376965 1992
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 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 Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. 7969679 1994
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 Biomarker disease CTD_human
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease CLINVAR Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 23732293 2013