Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086

2015
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT First report of HGD mutations in a Chinese with alkaptonuria. 23353776

2013
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. 21437689

2012
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 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: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 10340975

1999
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT 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: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Allelic heterogeneity of alkaptonuria in Central Europe. 10482952

1999
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT 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: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation BEFREE 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: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT A novel point mutation associated with alkaptonuria. 9630082

1998
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363

1998
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Molecular defects in alkaptonuria. 9154114

1997
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT The molecular basis of alkaptonuria. 8782815

1996
dbSNP: rs120074172
rs120074172
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		C 0.810 CausalMutation CLINVAR

dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086

2015
dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT First report of HGD mutations in a Chinese with alkaptonuria. 23353776

2013
dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		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: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 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: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. 21437689

2012
dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		C 0.810 CausalMutation CLINVAR Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		C 0.810 CausalMutation CLINVAR Three-generational alkaptonuria in a non-consanguineous family. 19096913

2008
dbSNP: rs120074173
rs120074173
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		0.810 GeneticVariation UNIPROT 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
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		C 0.810 CausalMutation CLINVAR Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria. 10465119

1999