Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker GENOMICS_ENGLAND A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754

2003
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. 15025684

2004
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population. 15100373

2004
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. 27225851

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND Fabry disease: an underrecognized cause of proteinuria. 18033242

2008
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731

1988
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041

2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker GENOMICS_ENGLAND Heterozygous defects in PAX6 gene and congenital hypopituitarism. 25342853

2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker GENOMICS_ENGLAND Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 17406642

2007
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230

1995
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. 27421701

2016
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. 19781682

2009
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. 2212727

1990
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017