DisGeNET - a database of gene-disease associations

HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66

Disease: Acute intermittent porphyria ×

Variant: rs998842815 ×

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:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.

25703257

2015

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

25870942

2015

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.

23815679

2013

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.

19292878

2009

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.

14757946

2004

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

14669009

2004

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

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:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

11857754

2002

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).

11013452

2000

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.

10453740

1999

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

10602775

1999

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

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

10657149

1999

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.

9463797

1998

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.

9225970

1997

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.

7757070

1995

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

8825929

1995

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

"Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes ""variant acute intermittent porphyria"" with normal expression of the erythroid-specific enzyme."

7962538

1994

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

8262523

1993

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

CRIM-positive mutations of acute intermittent porphyria in Finland.

1301948

1992

dbSNP:

rs998842815

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0162565
Disease:

Acute intermittent porphyria

0.700

GeneticVariation

UNIPROT

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

1714233

1991