Gene: HGD ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR 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: rs120074174
rs120074174
HGD
T 0.810 CausalMutation CLINVAR 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: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
dbSNP: rs120074174
rs120074174
HGD
T 0.810 CausalMutation CLINVAR Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Three-generational alkaptonuria in a non-consanguineous family. 19096913

2008
dbSNP: rs120074174
rs120074174
HGD
T 0.810 CausalMutation CLINVAR Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes. 12872836

2003
dbSNP: rs120074174
rs120074174
HGD
T 0.810 CausalMutation CLINVAR Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. 10970188

2000
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 10340975

1999
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. 10594001

1999
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria. 10465119

1999
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Allelic heterogeneity of alkaptonuria in Central Europe. 10482952

1999
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). 10205262

1999
dbSNP: rs120074173
rs120074173
HGD
C 0.810 CausalMutation CLINVAR Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363

1998
dbSNP: rs120074172
rs120074172
HGD
C 0.810 CausalMutation CLINVAR

dbSNP: rs200808744
rs200808744
HGD
T 0.800 GeneticVariation CLINVAR Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. 25804398

2016
dbSNP: rs28941783
rs28941783
HGD
T 0.800 CausalMutation CLINVAR Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. 25804398

2016
dbSNP: rs28941783
rs28941783
HGD
T 0.800 CausalMutation CLINVAR Alkaptonuria: a disease with dark brown urine. 27026014

2016
dbSNP: rs767159114
rs767159114
HGD
G 0.800 GeneticVariation CLINVAR Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. 25804398

2016
dbSNP: rs200808744
rs200808744
HGD
T 0.800 GeneticVariation CLINVAR Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086

2015
dbSNP: rs28941783
rs28941783
HGD
T 0.800 CausalMutation CLINVAR Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086

2015
dbSNP: rs28942100
rs28942100
HGD
A 0.800 CausalMutation CLINVAR Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086

2015
dbSNP: rs28941783
rs28941783
HGD
T 0.800 CausalMutation CLINVAR 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: rs28942100
rs28942100
HGD
A 0.800 CausalMutation CLINVAR 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: rs544956641
rs544956641
HGD
A 0.800 GeneticVariation CLINVAR 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: rs120074170
rs120074170
HGD
C 0.800 CausalMutation CLINVAR An update on molecular genetics of Alkaptonuria (AKU). 21720873

2011