Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
1.000 Biomarker MGD Mouse models of human ocular disease for translational research. 28859131

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker MGD Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH). 28545977

2017

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
1.000 Biomarker MGD Understanding how loss of LAMP-2 expression leads to cardiomyocyte dysfunction and heart failure has important implications for the treatment of Danon disease as well as a variety of other cardiac disorders associated with impaired autophagy. 28526246

2017

Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
1.000 Biomarker MGD Individuals with Hajdu-Cheney syndrome (HCS) present with osteoporosis, and HCS is associated with <i>NOTCH2</i> mutations causing deletions of the proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain that are predicted to enhance NOTCH2 stability and cause gain-of-function. 28592489

2017

Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III
1.000 Biomarker MGD Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). 29044151

2017

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 Biomarker MGD Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. 28688851

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
1.000 Biomarker MGD We find that recombination of Plp1 in excitatory projection neurons does not cause neuropathology, whereas oligodendroglial targeting of Plp1 is sufficient to cause the entire neurodegenerative spectrum of SPG2 including axonopathy and secondary neuroinflammation. 28836307

2017

Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
Basal ganglia disease, biotin-responsive
1.000 Biomarker MGD SLC19A3 deficiency, also called thiamine metabolism dysfunction syndrome-2 (THMD2; OMIM 607483), is an autosomal recessive neurodegenerative disorder caused by mutations in SLC19A3, the gene encoding thiamine transporter 2. 28665968

2017

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
1.000 Biomarker MGD Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. 27189882

2017

Entrez Id: 23209
Gene Symbol: MLC1
MLC1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
1.000 Biomarker MGD Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model. 28695146

2017

Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
1.000 Biomarker MGD New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. 28167839

2017

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker MGD The X-linked genetic bleeding disorder caused by deficiency of coagulator factor IX, hemophilia B, is a disease ideally suited for gene therapy with genome editing technology. 26964564

2016

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Effect of genetic background on the dystrophic phenotype in mdx mice. 26566673

2016

Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease
1.000 Biomarker MGD Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. 27491075

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 Biomarker CTD_mouse Ezrin Inhibition Up-regulates Stress Response Gene Expression. 27137931

2016

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: 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: 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: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker RGD The Fah(-/-) rats faithfully represented major phenotypic and biochemical manifestations of human HT1, including hypertyrosinemia, liver failure, and renal tubular damage. 27510266

2016

Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome
1.000 Biomarker MGD Mice homozygous for the Nbeal2 8 bp deletion (Nbeal2gps/gps) exhibit a phenotype similar to human GPS, with significantly reduced platelet counts compared to littermate controls (p = 1.63 x 10-7). 26950939

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: 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: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker MGD Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration. 26730403

2016

Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
1.000 Biomarker MGD We created a mouse model reproducing the Hajdu Cheney syndrome by introducing a 6955C→T mutation in the Notch2 locus leading to a Q2319X change at the amino acid level. 26627824

2016

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 Biomarker MGD A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation. 27212476

2016