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:

rs118204094

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.830

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs536814318

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs118204095

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs118204099

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs118204098

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs118204096

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs1205219549

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.710

GeneticVariation

UNIPROT

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

11857754

2002

dbSNP:

rs998842815

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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:

rs150763621

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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:

rs142459647

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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:

rs1165046276

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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:

rs1057521126

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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:

rs118204094

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.830

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs536814318

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs118204095

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.810

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs118204099

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs118204098

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs118204096

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.800

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs1205219549

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.710

GeneticVariation

UNIPROT

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

1714233

1991

dbSNP:

rs998842815

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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

dbSNP:

rs150763621

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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

dbSNP:

rs142459647

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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

dbSNP:

rs1165046276

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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

dbSNP:

rs1057521126

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

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

dbSNP:

rs118204094

HMBS

CUI:	C0162565
Disease:	Acute intermittent porphyria

Acute intermittent porphyria

0.830

GeneticVariation

UNIPROT

Molecular analyses of unrelated AIP patients revealed six exonic mutations: an initiating methionine to isoleucine substitution (M1I) in a patient with variant AIP, which precluded translation of the housekeeping, but not the erythroid-specific isozyme; four missense mutations in classical AIP patients, V93F, R116W, R201W, C247F; and a nonsense mutation W283X in a classical AIP patient, which truncated the housekeeping and erythroid-specific isozymes.

7962538

1994