Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia
1.000 Biomarker MGD Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. 25451153

2015

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker MGD We found that Cyfip2(+/-) mice exhibited behavioral phenotypes similar to Fmr1-null (Fmr1(-/y)) mice, an animal model of FXS. 25432536

2015

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
1.000 Biomarker MGD Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). 26385640

2015

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker MGD Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease. 25609071

2015

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD To determine whether the truncated gene product acts as a dominant negative allele and if RTT-like phenotypes could be rescued by expression of wild-type protein, we genetically introduced an extra copy of MECP2 via an MECP2 transgene. 25634563

2015

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker MGD LSD1 Neurospecific Alternative Splicing Controls Neuronal Excitability in Mouse Models of Epilepsy. 24735673

2015

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker MGD Together, these findings suggest that Ube3a reinstatement early in development may be necessary to prevent or rescue most AS-associated phenotypes and should be considered in future clinical trial design. 25866966

2015

Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease
1.000 Biomarker MGD Canavan disease (CD) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (ASPA), which hydrolyzes N-acetylaspartate (NAA). 26511242

2015

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
1.000 Biomarker MGD Heterozygous mutations in CHD7 cause CHARGE syndrome in 70% to 90% of patients. 26670829

2015

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

2015

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker MGD Myo5b knockout mice closely resemble the phenotype of MVID patients and constitute a useful model to further investigate the underlying molecular mechanism of this disease and to preclinically assess the efficacy of novel therapeutic approaches. 26201991

2015

Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia
1.000 Biomarker MGD GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). 25736695

2015

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
1.000 Biomarker MGD Potassium dependent rescue of a myopathy with core-like structures in mouse. 25564733

2015

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker MGD We aimed to elucidate arrhythmia mechanisms in a RyR2-linked CPVT mutation (RyR2-A4860G) that depresses channel activity. 25775566

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 Biomarker MGD The Ca(2+) channelopathies caused by mutations of the CACNA1A gene that encodes the pore-forming subunit of the human Cav2.1 (P/Q-type) voltage-gated Ca(2+) channel include episodic ataxia type 2 (EA2). 25855180

2015

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker MGD The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015

Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME
1.000 Biomarker MGD KRS is caused by recessive loss-of-function mutations in the ATP13A2 gene encoding the endolysosomal ATPase ATP13A2. 25855184

2015

Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA
1.000 Biomarker MGD The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria, due to a defect in L-2-hydroxyglutarate dehydrogenase, by creating and studying a mouse model of this disease. 25763823

2015

Entrez Id: 23209
Gene Symbol: MLC1
MLC1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
1.000 Biomarker MGD Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle. 25382142

2015

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 Biomarker MGD A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. 25468678

2015

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria
1.000 Biomarker MGD An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. 25048459

2014

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker MGD We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome. 25153086

2014

Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
1.000 Biomarker MGD Mouse model of glycogen storage disease type III. 24613482

2014

Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
1.000 Biomarker MGD Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. 25092169

2014

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy
1.000 Biomarker MGD The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat). 25264521

2014