DisGeNET - a database of gene-disease associations

Alkaptonuria, C0002066

Gene: HGD ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

25681086

2015

dbSNP:

rs120074173

HGD

0.810

GeneticVariation

UNIPROT

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

25681086

2015

dbSNP:

rs120074174

HGD

0.810

GeneticVariation

UNIPROT

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

25681086

2015

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

First report of HGD mutations in a Chinese with alkaptonuria.

23353776

2013

dbSNP:

rs120074173

HGD

0.810

GeneticVariation

UNIPROT

First report of HGD mutations in a Chinese with alkaptonuria.

23353776

2013

dbSNP:

rs120074174

HGD

0.810

GeneticVariation

UNIPROT

First report of HGD mutations in a Chinese with alkaptonuria.

23353776

2013

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

21437689

2012

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

23430897

2012

dbSNP:

rs120074173

HGD

0.810

CausalMutation

CLINVAR

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

23430897

2012

dbSNP:

rs120074173

HGD

0.810

GeneticVariation

UNIPROT

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

23430897

2012

dbSNP:

rs120074173

HGD

0.810

GeneticVariation

UNIPROT

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

21437689

2012

dbSNP:

rs120074174

HGD

0.810

GeneticVariation

UNIPROT

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

21437689

2012

dbSNP:

rs120074174

HGD

0.810

CausalMutation

CLINVAR

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

23430897

2012

dbSNP:

rs120074174

HGD

0.810

GeneticVariation

UNIPROT

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

23430897

2012

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

19862842

2009

dbSNP:

rs120074173

HGD

0.810

GeneticVariation

UNIPROT

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

19862842

2009

dbSNP:

rs120074173

HGD

0.810

CausalMutation

CLINVAR

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

19862842

2009

dbSNP:

rs120074174

HGD

0.810

CausalMutation

CLINVAR

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

19862842

2009

dbSNP:

rs120074174

HGD

0.810

GeneticVariation

UNIPROT

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

19862842

2009

dbSNP:

rs120074173

HGD

0.810

CausalMutation

CLINVAR

Three-generational alkaptonuria in a non-consanguineous family.

19096913

2008

dbSNP:

rs120074174

HGD

0.810

CausalMutation

CLINVAR

Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes.

12872836

2003

dbSNP:

rs120074174

HGD

0.810

GeneticVariation

BEFREE

Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes.

12872836

2003

dbSNP:

rs120074174

HGD

0.810

CausalMutation

CLINVAR

Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.

10970188

2000

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

10340975

1999

dbSNP:

rs120074172

HGD

0.810

GeneticVariation

UNIPROT

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

10205262

1999