Gene: HMBS ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs118204094
rs118204094
HMBS
0.830 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: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs. 15669678

2004
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. 14757946

2004
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. 11857754

2002
dbSNP: rs118204094
rs118204094
HMBS
0.830 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: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). 10602775

1999
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. 10657149

1999
dbSNP: rs118204094
rs118204094
HMBS
0.830 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: rs118204094
rs118204094
HMBS
0.830 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: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. 9225970

1997
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. 7757070

1995
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. 8825929

1995
dbSNP: rs118204094
rs118204094
HMBS
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
dbSNP: rs118204094
rs118204094
HMBS
0.830 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: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT CRIM-positive mutations of acute intermittent porphyria in Finland. 1301948

1992
dbSNP: rs118204094
rs118204094
HMBS
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: rs118204094
rs118204094
HMBS
T 0.830 CausalMutation CLINVAR

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: rs118204095
rs118204095
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: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015