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 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 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 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 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 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 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 GeneticVariation UNIPROT Detection of mutations in COL4A5 in patients with Alport syndrome. 10094548

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 Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. 8406498

1993
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. 10862091

2000
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome. 9452056

1998
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT 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 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation UNIPROT Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 9150741

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 Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. 7853788

1994
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 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation 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
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation CLINVAR Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. 12105244

2002
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.900 GeneticVariation CLINVAR Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. 7599631

1995