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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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