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 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 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 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 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 CausalMutation disease 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 		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 CausalMutation disease CLINVAR Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. 12436246 2002
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease 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 		0.900 GeneticVariation disease 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 		0.900 CausalMutation disease CLINVAR Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy. 21505094 2011
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease UNIPROT Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. 10563487 1999
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 Biomarker disease GENOMICS_ENGLAND The clinical spectrum of type IV collagen mutations. 9195222 1997
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 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 GeneticVariation disease 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 		0.900 CausalMutation disease CLINVAR Sporadic case of X-chromosomal Alport syndrome in a consanguineous family. 10955921 2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 GeneticVariation disease CLINVAR Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 8940267 1996
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 Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 8940267 1996
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 Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. 10862091 2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease 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 		0.900 GeneticVariation disease UNIPROT Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 1672282 1991