Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086

2015
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT First report of HGD mutations in a Chinese with alkaptonuria. 23353776

2013
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. 21437689

2012
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. 23430897

2012
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 10340975

1999
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Mutational analysis of the HGO gene in Finnish alkaptonuria patients. 10594001

1999
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU. 10205262

1999
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation BEFREE These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU. 10205262

1999
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Allelic heterogeneity of alkaptonuria in Central Europe. 10482952

1999
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363

1998
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT A novel point mutation associated with alkaptonuria. 9630082

1998
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT Molecular defects in alkaptonuria. 9154114

1997
dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation UNIPROT The molecular basis of alkaptonuria. 8782815

1996