Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
1.000 Biomarker MGD Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by inherited deficiency of the mitochondrial protein Frataxin (FXN), which has no approved therapy and is an area in which biomarkers are needed for clinical development. 28444186

2018

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
1.000 Biomarker MGD Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. 29329111

2018

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 Biomarker MGD Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. 29145636

2018

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 Biomarker MGD To define the molecular basis for STGD1 associated with the p.Asn965Ser (N965S) mutation in the Walker A motif of nucleotide binding domain 1 (NBD1), we generated a p.Asn965Ser knockin mouse and compared the subcellular localization and molecular properties of the disease variant with wild-type (WT) ABCA4. 29145636

2018

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 Biomarker MGD On the basis of these studies we conclude that loss in substrate-dependent ATPase activity and protein misfolding are mechanisms underlying STGD1 associated with the p.Asn965Ser mutation in ABCA4. 29145636

2018

Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
1.000 Biomarker MGD Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. 29222403

2018

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: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Duchenne muscular dystrophy (DMD) is a severe, progressive muscle disease caused by mutations in the dystrophin gene. 29187645

2017

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Deletions of exon 50 of the dystrophin gene are among the most common single exon deletions causing DMD. 29187645

2017

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD The majority of DMD mutations are deletions that prematurely terminate the dystrophin protein. 29187645

2017

Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria
1.000 Biomarker MGD A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. 28600349

2017

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. 27551807

2017

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. 27551807

2017

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: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
1.000 Biomarker MGD A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. 27053713

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: 5354
Gene Symbol: PLP1
PLP1
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
1.000 Biomarker MGD Proteolipid protein (PLP) is the most abundant integral membrane protein in compact central nervous system myelin, and null mutations of the PLP1 gene cause spastic paraplegia type 2 (SPG2). 28836307

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: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked
1.000 Biomarker MGD Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment. 27466184

2017

Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
1.000 Biomarker MGD Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. 26234751

2017

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

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: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker MGD Abnormalities in actin-rich dendritic spines are major neuronal features in FXS, but the molecular mechanism and identity of FMRP targets mediating this phenotype remain largely unknown. 25432536

2016

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker MGD Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors. 25432536

2016

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

2016