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
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: 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: 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: 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: 122618
Gene Symbol: PLD4
PLD4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.210 Biomarker MGD Pld4 mutant mice revealed autoimmune phenotypes suggesting functional involvement of PLD4 with the basics of SLE. 30679154

2019
Entrez Id: 137392
Gene Symbol: FAM92A
FAM92A
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.210 Biomarker MGD FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. 30395363

2019
Entrez Id: 196500
Gene Symbol: PIANP
PIANP
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 Biomarker MGD Pianp deficiency links GABAB receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior. 31511635

2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.200 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: 55486
Gene Symbol: PARL
PARL
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.200 Biomarker MGD PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome. 30578322

2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.200 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: 90956
Gene Symbol: ADCK2
ADCK2
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.200 Biomarker MGD ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency. 31480808

2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.200 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: 6016
Gene Symbol: RIT1
RIT1
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.200 Biomarker MGD New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. 30898653

2019