Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. 25870942

2015

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT The HMBS mutations in AIP family members were studied by PCR-SSCP followed by direct sequencing. 25703257

2015

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 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

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP. 19138865

2009

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive. 19292878

2009

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene. 11399210

2008

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT This study demonstrates that in vitro characterization of missense variations in the HMBS gene can provide valuable information for the interpretation of clinical, biochemical and genetic data, for establishing a diagnosis of AIP. 18406650

2008

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene. 16211556

2005

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors. 14970743

2004

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD). 14757946

2004

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 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

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Porphobilinogen deaminase mutants that cause acute intermittent porphyria have been investigated as recombinant proteins expressed in Escherichia coli, yielding important insight into the mechanism of dipyrromethane cofactor assembly and tetrapyrrole chain polymerization. 12773194

2003

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Although more than 170 different mutations are known to the HMBS gene so far, over 40% of all mutations identified among the Polish AIP patients of this study are novel mutations, indicating the heterogeneity of molecular defects causing AIP. 11857754

2002

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene. 12372055

2002

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Since 1966, we have studied all known Finnish AIP patients (n = 196) and their families (n = 45) and identified the porphobilinogen deaminase (PBGD) mutation in each family. 12406973

2002

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT The PBGD gene of 18 Swiss AIP patients was analyzed by denaturing gradient gel electrophoresis screening of the genomic DNA and direct sequencing. 10782018

2000

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Here, two new mutations and two previously reported were found in the PBGD gene in 22 Argentinean AIP patients corresponding to 8 different families. 11013452

2000

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT This study highlights differences both in PBGD gene mutations causing AIP and in SNPs between white and black peoples; the allele frequencies provided contribute to a better knowledge of the variability of these markers among the major population groups, especially in sub-Saharan West African and Afro-Caribbean populations. 11030413

2000

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Our results define the extent of allelic heterogeneity and the types (41% missense; 59% truncating) and distribution (35% in exons 10, 12, 14) of HMBS mutations, for AIP in the United Kingdom. 10453740

1999

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin. 10657149

1999

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Here, two new mutations and three previously reported were found in the PBG-D gene in 12 Argentinean AIP patients corresponding to 5 different families. 10502788

1999

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. 10494093

1999

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
1.000 GeneticVariation UNIPROT Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). 10602775

1999