×
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