Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 Biomarker MGD A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. 30239779

2019

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 Biomarker MGD A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. 30239779

2019

Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
1.000 Biomarker MGD Photoreceptor degeneration in a new Cacna1f mutant mouse model. 30445045

2019

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker MGD A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. 29924856

2018

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker MGD These data demonstrate that neurofibromin haploinsufficiency impairs spermatogenesis and fertility in a mouse model of NF1. 30571760

2018

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
1.000 Biomarker MGD Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1. 30571760

2018

Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome
1.000 Biomarker MGD Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. 30403997

2018

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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: 29914
Gene Symbol: UBIAD1
UBIAD1
Schnyder crystalline corneal dystrophy
1.000 Biomarker MGD Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene. 29977031

2018

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk. 29735309

2018

Entrez Id: 129563
Gene Symbol: DIS3L2
DIS3L2
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
1.000 Biomarker MGD Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells. 29950491

2018

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked
1.000 Biomarker MGD A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism. 30013483

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: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 Biomarker MGD A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only. 29360446

2018

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria
1.000 Biomarker MGD α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. 28165480

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: 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: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
1.000 Biomarker MGD Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. 28695822

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: 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