Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 29390993

2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. 28202424

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature. 28628939

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17). 27072799

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De novo GNAO1 variants have been found in four patients including three patients with Ohtahara syndrome and one patient with childhood epilepsy. 25966631

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. 26485252

2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN 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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846

1997