Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker CLINGEN A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. 29935962

2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker CLINGEN The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. 26060304

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker CLINGEN GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker CLINGEN Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. 27068059

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker CLINGEN Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder. 27625011

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker CLINGEN Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631

2016
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker GENOMICS_ENGLAND Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 23126439

2012
Entrez Id: 2512
Gene Symbol: FTL
FTL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.320 Biomarker GENOMICS_ENGLAND Neuroferritinopathy. 24209436

2013
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker GENOMICS_ENGLAND Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. 30929742

2019
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612

2019
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916

2015
Entrez Id: 200424
Gene Symbol: TET3
TET3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 Biomarker HPO

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.440 Biomarker HPO

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 Biomarker HPO

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 Biomarker HPO

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.150 Biomarker HPO

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 Biomarker HPO

Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 Biomarker HPO

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 Biomarker HPO

Entrez Id: 4644
Gene Symbol: MYO5A
MYO5A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 Biomarker HPO

Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker HPO

Entrez Id: 4549
Gene Symbol: RNR1
RNR1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker HPO

Entrez Id: 7468
Gene Symbol: NSD2
NSD2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker HPO

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker HPO