Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		0.200 Biomarker RGD The combination of 31409163

2020
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: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker RGD The authors used this method to generate a transgenic rat L1cam knockout model of X-linked hydrocephalus (XLH) with human genetic etiology. 30738385

2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		1.000 Biomarker MGD Photoreceptor degeneration in a new Cacna1f mutant mouse model. 30445045

2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.910 Biomarker MGD Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 31479441

2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 		0.910 Biomarker MGD Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes. 30682176

2019
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 Biomarker RGD Key mechanisms underlying netrin-1 prevention of impaired spatial and object memory in Aβ1-42 CA1-injected rats. 30066400

2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker MGD To investigate how germline RIT1 mutations cause NS, we generated knock-in mice that carried a NS-associated Rit1 A57G mutation (Rit1<sup>A57G/+</sup>). 30898653

2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.900 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: 6016
Gene Symbol: RIT1
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.900 Biomarker MGD New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. 30898653

2019
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 Biomarker MGD The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. 30602030

2019
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151
CUI: C4015016
Disease: CILIARY DYSKINESIA, PRIMARY, 30
CILIARY DYSKINESIA, PRIMARY, 30 		0.800 Biomarker MGD Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia. 31383820

2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 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
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 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: 55172
Gene Symbol: DNAAF2
DNAAF2
CUI: C2675867
Disease: CILIARY DYSKINESIA, PRIMARY, 10
CILIARY DYSKINESIA, PRIMARY, 10 		0.700 Biomarker MGD A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. 31107948

2019
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.600 Therapeutic RGD Cupuaçu extract reduces nitrosative stress and modulates inflammatory mediators in the kidneys of experimental diabetes. 29336891

2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.600 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: 137392
Gene Symbol: FAM92A
FAM92A
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.510 Biomarker MGD FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. 30395363

2019
Entrez Id: 240
Gene Symbol: ALOX5
ALOX5
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.500 Therapeutic RGD Phenotypically Silent Bone Morphogenetic Protein Receptor 2 Mutations Predispose Rats to Inflammation-Induced Pulmonary Arterial Hypertension by Enhancing the Risk for Neointimal Transformation. 31462075

2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.500 Therapeutic RGD Ellagic Acid Prevents Oxidative Stress, Inflammation, and Histopathological Alterations in Acrylamide-Induced Hepatotoxicity in Wistar Rats. 31342809

2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.500 Therapeutic RGD Ellagic Acid Prevents Oxidative Stress, Inflammation, and Histopathological Alterations in Acrylamide-Induced Hepatotoxicity in Wistar Rats. 31342809

2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 Biomarker MGD Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 31479441

2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.320 Biomarker RGD Animals with TMEM67 heterozygous mutations manifest slowly progressing hydrocephalus, observed during the postnatal period and continuing into adulthood. 30705305

2019
Entrez Id: 5919
Gene Symbol: RARRES2
RARRES2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.300 Biomarker RGD Aerobic exercise decreases chemerin/CMKLR1 in the serum and peripheral metabolic organs of obesity and diabetes rats by increasing PPARγ. 30873215

2019