rs752153829, HGD

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 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
0.700 GeneticVariation UNIPROT First report of HGD mutations in a Chinese with alkaptonuria. 23353776 2013
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. 21437689 2012
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 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
0.700 GeneticVariation UNIPROT Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842 2009
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 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
0.700 GeneticVariation UNIPROT Mutational analysis of the HGO gene in Finnish alkaptonuria patients. 10594001 1999
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT Allelic heterogeneity of alkaptonuria in Central Europe. 10482952 1999
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 10340975 1999
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT A novel point mutation associated with alkaptonuria. 9630082 1998
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363 1998
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT Molecular defects in alkaptonuria. 9154114 1997
Alkaptonuria
CUI: C0002066
Disease: Alkaptonuria
0.700 GeneticVariation UNIPROT The molecular basis of alkaptonuria. 8782815 1996