Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog 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: C0265202
Disease: Seckel syndrome
Seckel 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: C0265205
Disease: Robinow Syndrome
Robinow 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: 115948
Gene Symbol: CCDC151
CCDC151
CUI: C0265747
Disease: Congenital atresia of nasopharynx
Congenital atresia of nasopharynx 		0.200 Biomarker MGD Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia. 31383820

2019
Entrez Id: 55172
Gene Symbol: DNAAF2
DNAAF2
CUI: C0265747
Disease: Congenital atresia of nasopharynx
Congenital atresia of nasopharynx 		0.200 Biomarker MGD A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. 31107948

2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange 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: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		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: 115948
Gene Symbol: CCDC151
CCDC151
CUI: C0478019
Disease: Other specified congenital malformations of respiratory system
Other specified congenital malformations of respiratory system 		0.200 Biomarker MGD Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia. 31383820

2019
Entrez Id: 55172
Gene Symbol: DNAAF2
DNAAF2
CUI: C0478019
Disease: Other specified congenital malformations of respiratory system
Other specified congenital malformations of respiratory system 		0.200 Biomarker MGD A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. 31107948

2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker MGD Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 31479441

2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 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: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 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: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		0.200 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: 22821
Gene Symbol: RASA3
RASA3
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 Biomarker MGD Increased Reactive Oxygen Species and Cell Cycle Defects Contribute to Anemia in the RASA3 Mutant Mouse Model scat. 29922180

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.200 Biomarker MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920

2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.200 Biomarker MGD A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 29379136

2018
Entrez Id: 23428
Gene Symbol: SLC7A8
SLC7A8
CUI: C0018776
Disease: Hearing Loss, Central
Hearing Loss, Central 		0.200 Biomarker MGD Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. 29355479

2018