Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. 29226631

2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.160 CausalMutation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.160 GeneticVariation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632

2018
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: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138

2017
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
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: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. 29062322

2017
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Prion diseases. 28987186

2017
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726

2017
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726

2017
Entrez Id: 894
Gene Symbol: CCND2
CCND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395

2017
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017