Source: RGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker RGD Here we describe development and characterization of the first cystic fibrosis rat, in which the cystic fibrosis transmembrane conductance regulator gene (CFTR) was knocked out using a pair of zinc finger endonucleases (ZFN). 24608905

2015

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker RGD A novel F8 -/- rat as a translational model of human hemophilia A. 24931420

2015

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker RGD Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disorder caused by mutations in the Dmd gene encoding Dystrophin. 25005781

2014

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker RGD Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy. 25310701

2014

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker RGD Degraded speech sound processing in a rat model of fragile X syndrome. 24713347

2014

Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1
1.000 Therapeutic RGD Crigler-Najjar syndrome is an autosomal recessive disorder with severe unconjugated hyperbilirubinemia due to deficiency of bilirubin UDP-glucuronosyltransferase isozyme 1A1 (UGT1A1) encoded by the UGT1A1 gene. 22765254

2013

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1
1.000 Biomarker RGD Animal models for EA1 include Kcna1-deficient mice, which recessively display severe seizures and die prematurely, and V408A-knock-in mice, which dominantly exhibit stress-induced loss of motor coordination. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1
1.000 Biomarker RGD Mutations in the KCNA1 gene, which encodes for the α subunit of the voltage-gated potassium channel Kv1.1, cause episodic ataxia type 1 (EA1). 22206926

2012

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker RGD Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim. 19671919

2009

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 Biomarker RGD PNMT, which defines adrenergic chromaffin cells, is frequently expressed in human pheochromocytomas, often in tumors that also overexpress RET. 18317952

2009

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker RGD The MECP2 (methyl-CpG-binding protein 2) gene has been implicated in the pathogenesis of Rett Syndrome. 18396005

2008

Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
1.000 Biomarker RGD Apoptosis of supraoptic AVP neurons is involved in the development of central diabetes insipidus after hypophysectomy in rats. 18578860

2008

Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
1.000 Biomarker RGD It has been reported that various types of axonal injury of hypothalamo-neurohypophyseal tract can result in degeneration of the magnocellular neurons (MCNs) in hypothalamus and development of central diabetes insipidus (CDI). 18578860

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker RGD Abnormal hepatobiliary and circulating lipid metabolism in the Long-Evans Cinnamon rat model of Wilson's disease. 17303181

2007

Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1
1.000 Biomarker RGD In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. 15760344

2005

Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
1.000 Biomarker RGD PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. 14983006

2004

Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
1.000 Biomarker RGD In the kidneys of the pck rats, the rat model of which is genetically homologous to human ARPKD, the level of PKHD1 was significantly reduced but not completely absent. 14983006

2004

Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
1.000 Biomarker RGD Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. 14983006

2004

Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
1.000 SusceptibilityMutation RGD A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes. 11919560

2002

Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
1.000 Biomarker RGD The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage. 12426626

2002

Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
1.000 SusceptibilityMutation RGD Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. 11286616

2001

Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
1.000 Biomarker RGD Deletion in the beige gene of the beige rat owing to recombination between LINE1s. 10384041

1999

Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic
1.000 Biomarker RGD Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. 8599091

1996

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 Biomarker RGD Distribution of androgen receptor immunoreactivity in the spinal cord of wild-type, androgen-insensitive and gonadectomized male rats. 7643075

1995