DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: ALPORT SYNDROME 1, X-LINKED ×

Variant: rs104886253 ×

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:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

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

24522658

2014

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Clinical utility gene card for: Alport syndrome.

22166944

2012

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

11223851

2001

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

10862091

2000

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Mutational analysis of COL4A5 gene in Korean Alport syndrome.

10684360

2000

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.

11004279

2000

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

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

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Detection of mutations in COL4A5 in patients with Alport syndrome.

10094548

1999

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.

10563487

1999

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

9848783

1998

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.

9452056

1998

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

9150741

1997

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.

8829632

1996

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

8940267

1996

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

8651296

1996

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.

7599631

1995

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

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

7853788

1994

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

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

8406498

1993

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

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

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

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

dbSNP:

rs104886253

COL4A5

CUI:	C4746986
Disease:	ALPORT SYNDROME 1, X-LINKED

ALPORT SYNDROME 1, X-LINKED

0.700

GeneticVariation

UNIPROT

Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.

1672282

1991