Source: CLINVAR

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 GeneticVariation CLINVAR

Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 SusceptibilityMutation CLINVAR

Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met." 10764043

2000
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 23632999

2013
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383

1994
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 GeneticVariation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. 23950017

2013
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906

2017
Entrez Id: 8838
Gene Symbol: CCN6
CCN6
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. 25694107

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2017
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014