DisGeNET - a database of gene-disease associations

COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104886297

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

CausalMutation

CLINVAR

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

26809805

2016

dbSNP:

rs104886043

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886063

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886079

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886088

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886091

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886096

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886121

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886134

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886140

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886140

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

CausalMutation

CLINVAR

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

24854265

2014

dbSNP:

rs104886142

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886163

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886189

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886225

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886228

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886229

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886237

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886255

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886255

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

CausalMutation

CLINVAR

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

24033287

2014

dbSNP:

rs104886282

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

CausalMutation

CLINVAR

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.

24304881

2014

dbSNP:

rs104886282

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886287

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886293

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014

dbSNP:

rs104886297

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

CUI:	C4746986
Disease:

ALPORT SYNDROME 1, X-LINKED

0.800

GeneticVariation

UNIPROT

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

24522658

2014