Gene: HMBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs118204095
rs118204095
HMBS
0.810 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: rs536814318
rs536814318
HMBS
0.810 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: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation BEFREE However, the diagnosis of AIP was established on the basis of a 64% reduction in erythrocyte hydroxymethylbilane synthase (HMBS) activity and the finding of a known causative AIP mutation (p.D178N). 19267997

2009
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004
dbSNP: rs118204095
rs118204095
HMBS
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
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. 14757946

2004
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. 14757946

2004
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs. 15669678

2004
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. 11857754

2002
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. 11857754

2002
dbSNP: rs118204095
rs118204095
HMBS
0.810 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: rs536814318
rs536814318
HMBS
0.810 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: rs118204095
rs118204095
HMBS
0.810 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: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. 10657149

1999
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). 10602775

1999
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). 10602775

1999
dbSNP: rs536814318
rs536814318
HMBS
0.810 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: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. 10657149

1999