rs120074173, HGD

N. diseases: 1
Disease: Alkaptonuria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. 25681086 2015
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT First report of HGD mutations in a Chinese with alkaptonuria. 23353776 2013
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
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
Alkaptonuria
CUI: C0002066
Disease: 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
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. 21437689 2012
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842 2009
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 CausalMutation CLINVAR Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842 2009
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 CausalMutation CLINVAR Three-generational alkaptonuria in a non-consanguineous family. 19096913 2008
Alkaptonuria
CUI: C0002066
Disease: 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
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 CausalMutation CLINVAR Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria. 10465119 1999
Alkaptonuria
CUI: C0002066
Disease: 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
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
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
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 10340975 1999
Alkaptonuria
CUI: C0002066
Disease: 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
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Allelic heterogeneity of alkaptonuria in Central Europe. 10482952 1999
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 CausalMutation CLINVAR Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 10340975 1999
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 CausalMutation CLINVAR Allelic heterogeneity of alkaptonuria in Central Europe. 10482952 1999
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
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
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363 1998
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 CausalMutation CLINVAR Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363 1998
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT A novel point mutation associated with alkaptonuria. 9630082 1998
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT Molecular defects in alkaptonuria. 9154114 1997
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.810 GeneticVariation UNIPROT The molecular basis of alkaptonuria. 8782815 1996