Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 		0.910 Biomarker GENOMICS_ENGLAND De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 23993195

2013
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		0.610 Biomarker GENOMICS_ENGLAND GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		0.610 Biomarker GENOMICS_ENGLAND GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		0.610 Biomarker GENOMICS_ENGLAND Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. 26060304

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		0.610 Biomarker GENOMICS_ENGLAND Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. 27068059

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		0.610 Biomarker GENOMICS_ENGLAND De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 23993195

2013
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.450 Biomarker GENOMICS_ENGLAND By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. 23993195

2013