×
Entrez Id:
3717
Gene Symbol:
JAK2
JAK2
Primary Myelofibrosis
1.000
GeneticVariation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Primary Myelofibrosis
1.000
GeneticVariation
CLINVAR
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
18528423
2008
×
Entrez Id:
3717
Gene Symbol:
JAK2
JAK2
Primary Myelofibrosis
1.000
GeneticVariation
CLINVAR
Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis.
24986690
2014
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Primary Myelofibrosis
1.000
GeneticVariation
CLINVAR
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.
20151976
2010
×
Entrez Id:
3717
Gene Symbol:
JAK2
JAK2
Primary Myelofibrosis
1.000
GeneticVariation
CLINVAR
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
16293597
2006
×
Entrez Id:
3081
Gene Symbol:
HGD
HGD
Alkaptonuria
1.000
GeneticVariation
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
GeneticVariation
CLINVAR
In order to record AKU -causing mutations and variants of the HGD gene, we have created a HGD mutation database that is open for future submissions and is available online ( http://hgddatabase.cvtisr.sk/ ).
23430897
2012
×
Entrez Id:
3081
Gene Symbol:
HGD
HGD
Alkaptonuria
1.000
GeneticVariation
CLINVAR
Short-term efficacy of hyaluronic acid joint injections in a case of ochronotic arthropathy.
23519186
2013
×
Entrez Id:
3081
Gene Symbol:
HGD
HGD
Alkaptonuria
1.000
GeneticVariation
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
GeneticVariation
CLINVAR
Natural history of alkaptonuria.
12501223
2002
×
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
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
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
GeneticVariation
CLINVAR
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria .
19862842
2009
×
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
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
GeneticVariation
CLINVAR
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
20110537
2010
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene.
10916280
2000
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
21598360
2011
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
11914245
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
26252393
2015
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Pediatric Fabry disease.
15713906
2005
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
[Early diagnosis of Fabry disease in children].
21946453
2011
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
28682471
2017