×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
We also report characterization of five polymorphic sites in HGO and describe the haplotypic associations of alleles at these sites in normal and AKU chromosomes.
9529363 1998
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
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
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years.
20462779 2010
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
12872836 2003
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
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
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
To confirm alkaptonuria and ochronotic arthropathy diagnosis by mutation screening of the homogentisate 1,2-dioxygenase (HGD ) gene.
16085442 2006
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
Structural and functional analysis of mutations in alkaptonuria.
11001939 2000
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.
25233259 2014
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
12872836 2003
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
25804398 2016
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Structural and functional analysis of mutations in alkaptonuria.
11001939 2000
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria .
19862842 2009
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Natural history of alkaptonuria.
12501223 2002
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
12114497 2002
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
An update on molecular genetics of Alkaptonuria (AKU).
21720873 2011
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria .
19862842 2009
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
CausalMutation
CLINVAR
The results show complete cosegregation (Z = 6.32; theta = 0) between a C-->T transition at position 817 of the human HGO cDNA and AKU .
9674916 1998
×
Entrez Id: 3081
Gene Symbol: HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
To elucidate the mutation spectrum of the HGD gene in patients with alkaptonuria from 42 patients attending the National Alkaptonuria Centre, 14 exons of the HGD gene and the intron-exon boundaries were analysed by PCR-based sequencing.
25681086 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
23306324 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients.
17555407 2007
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
23109060 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study.
17452128 2007
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
12920095 2003
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
28082092 2017