Source: ANIMAL_MODELS

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 MGD Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 23200862

2012

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker MGD Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. 10587515

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker MGD However, when the copy number of the mutant allele increased from one (Fgfr3(TD/+) to two (Fgfr3(TD/TD), the retardation of bone growth became more severe and showed phenotypes resembling those of achondroplasia patients, characterized by a dramatically reduced proliferation of growth plate cartilage, macrocephaly and shortening of the long bones, which was most pronounced in the femur. 9887329

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker MGD A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. 11181569

2001

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker MGD A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283

1999

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker MGD Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. 20472827

2010

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker RGD Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim. 19671919

2009

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 Biomarker MGD aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. 8188247

1994

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker MGD alpha-Galactosidase A deficient mice: a model of Fabry disease. 9122231

1997

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker MGD Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. 22574107

2012

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker MGD Corneal avascularity is due to soluble VEGF receptor-1. 17051153

2006

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker MGD Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. 12714618

2003

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker MGD Requirement for Pax6 in corneal morphogenesis: a role in adhesion. 12692153

2003

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker MGD Development of Dickie's small eye, a mutation in the house mouse. 103464

1978

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker MGD A mouse model of the aniridia-Wilms tumor deletion syndrome. 2173141

1990

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD Thus, our study sheds light on the poorly understood role of ATM in the pathogenesis of glucose intolerance in A-T patients and provides insight into the role of ATM in glucose metabolism. 25683718

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker RGD Ataxia-telangiectasia (A-T), an autosomal recessive disease caused by mutations in the ATM gene is characterised by cerebellar atrophy and progressive neurodegeneration which has been poorly recapitulated in Atm mutant mice. 28007901

2017

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD We have generated a mouse model for ataxia-telangiectasia by using gene targeting to generate mice that do not express the Atm protein. 8917548

1996

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD Ataxia-telangiectasia (A-T) is a rare multi-system disorder caused by mutations in the ATM gene. 26310626

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD Neural degeneration is one of the clinical manifestations of ataxia-telangiectasia, a disorder caused by mutations in the Atm protein kinase gene. 9356511

1997

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD ATM, the gene mutated in the human immunodeficiency disorder ataxia-telangiectasia (A-T), plays a central role in recognizing ionizing radiation damage in DNA and in controlling several cell cycle checkpoints. 11389091

2001

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD To assess this hypothesis, we employed an animal model of A-T, the mouse with a disrupted Atm gene. 10449794

1999

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is caused by mutations in the ATM gene. 10716718

2000

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD ATM+/- fibroblasts and thymocytes showed intermediately defective responses to irradiation but no growth defect, suggesting that the increased cancer risk of AT heterozygotes could be attributable to poor checkpoint function. 8843193

1996

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD Atm gene-disrupted mice recapitulate the majority of characteristics observed in patients with the genetic disorder ataxia-telangiectasia (A-T). 14673010

2003