Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
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
CUI: C0001815
Disease: Primary Myelofibrosis
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
CUI: C0001815
Disease: Primary Myelofibrosis
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
CUI: C0001815
Disease: Primary Myelofibrosis
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
CUI: C0001815
Disease: Primary Myelofibrosis
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
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation CLINVAR Natural history of alkaptonuria. 12501223

2002

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation CLINVAR Structural and functional analysis of mutations in alkaptonuria. 11001939

2000

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation CLINVAR Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation CLINVAR An update on molecular genetics of Alkaptonuria (AKU). 21720873

2011

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
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
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation CLINVAR Pediatric Fabry disease. 15713906

2005

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation CLINVAR [Early diagnosis of Fabry disease in children]. 21946453

2011

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation CLINVAR Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. 28682471

2017