DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Acute intermittent porphyria ×

Gene: HMBS ×

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:

rs118204109

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

CausalMutation

CLINVAR

Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

8270256

1994

dbSNP:

rs118204096

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>A) or R173Q (6391G>A) mutations.

15669678

2004

dbSNP:

rs118204094

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.830

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs536814318

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs118204095

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs118204099

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs118204098

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs118204096

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs1205219549

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.710

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs998842815

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs150763621

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs142459647

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs1165046276

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs1057521126

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

10657149

1999

dbSNP:

rs118204094

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.830

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs536814318

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs118204095

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs118204099

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs118204098

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs1205219549

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.710

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs998842815

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs150763621

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs142459647

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs1165046276

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004

dbSNP:

rs1057521126

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

15669678

2004