Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD Moreover, administration of the exon 11 ASO reduced lamin A expression in wild-type mice and progerin expression in an HGPS mouse model. 26999604

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker MGD This redundancy suggests that diseases, such as Hutchinson-Gilford progeria syndrome (HGPS), that are caused by prelamin A-specific mutations could be treated by shifting the output of LMNA more toward lamin C. Here, we investigated mechanisms that regulate LMNA mRNA alternative splicing and assessed the feasibility of reducing prelamin A expression in vivo. 26999604

2016

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. 26647311

2016

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD To explore the role of cardiac problems in sudden death in RTT, we characterized cardiac rhythm in mice lacking Mecp2 function. 28159985

2016

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD To explore the role of MeCP2 within the parasympathetic neurons, we selectively removed MeCP2 function from cholinergic neurons (MeCP2 ChAT KO), which recapitulated the cardiac rhythm abnormalities, hypothermia, and early death seen in RTT male mice. 28159985

2016

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD Thus, MeCP2 in cholinergic neurons is necessary and sufficient for autonomic cardiac control, thermoregulation, and survival, and targeting the overactive parasympathetic system may be a useful therapeutic strategy to prevent sudden unexpected death in RTT. 28159985

2016

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD Sudden unexpected death occurs in one quarter of deaths in Rett Syndrome (RTT), a neurodevelopmental disorder caused by mutations in Methyl-CpG-binding protein 2 (MECP2). 28159985

2016

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker MGD A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. 25647322

2016

Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism
1.000 Biomarker MGD We describe a congenic Trim37 knock-out mouse (Trim37(-/-)) model for MUL. 27044324

2016

Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism
1.000 Biomarker MGD Trim37(-/-) mice recapitulate several features of the human MUL disease and thus provide a good model to study disease pathogenesis related to TRIM37 deficiency, including infertility, non-alcoholic fatty liver disease, cardiomyopathy and tumorigenesis. 27044324

2016

Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism
1.000 Biomarker MGD Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. 27044324

2016

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000 Biomarker MGD We characterized bone marrow stem cell-derived antigen presenting cells (APCs), peritoneal macrophages, and leukocytes from spleen and blood, harvested from the Cln3(-/-) mouse model of JNCL. 27101989

2016

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000 Biomarker MGD Our results show that CLN3 deficiency alters APCs, which can be a major contributor to the autoimmune response in JNCL. 27101989

2016

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000 Biomarker MGD Mutations of the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive lysosomal storage disorder that causes progressive neurodegeneration in children and adolescents. 27101989

2016

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000 Biomarker MGD Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. 27101989

2016

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: 6452
Gene Symbol: SH3BP2
SH3BP2
CUI: C0008029
Disease: Cherubism
Cherubism
1.000 Biomarker MGD Cherubism is a rare autoinflammatory bone disorder that is associated with point mutations in the SH3-domain binding protein 2 (SH3BP2) gene, which encodes the adapter protein 3BP2. 25705883

2015

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development. 26365037

2015

Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
1.000 Biomarker MGD Availability of the conditional allele for this gene should facilitate further detailed analyses of the role of EVC2/LIMBIN in pathogenesis of EvC syndrome. genesis 53:612-626, 2015.© 2015 Wiley Periodicals, Inc. 26219237

2015

Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
1.000 Biomarker MGD Here, we report generation of conventional and conditional mutant Evc2/Limbin alleles that mimics mutations found in EvC patients and bcd cattle. 26219237

2015

Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
1.000 Biomarker MGD Resulted homozygous mice showed no ciliary localization of EVC2 and EVC and displayed reduced Hedgehog signaling activity in association with skeletal and oral defects similar to the EvC patients. 26219237

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
1.000 Biomarker MGD Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. 25104852

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
1.000 Biomarker MGD An inherited deficiency of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this deficiency triggers neuro- and cardio-degeneration is unclear. 25104852

2015

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker MGD Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A. 25456742

2015