Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
CIZ1	gene	CIZ1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Early onset dystonia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders		Dystonia 23, 614860						False	2	0;0;0	1.152	False		ENSG00000148337	ENSG00000148337	HGNC:16744													
GNAL	gene	GNAL	Expert Review Amber;Radboud University Medical Center, Nijmegen	Early onset dystonia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dystonia 25, 615073				http://www.ncbi.nlm.nih.gov/books/NBK1155/;27222887;27123488;27093447;26810727;26725140;26506956;26365774;25847575;25382112;23222958;23449625;23759320;24151159;24408567;24535567;24729450;25382112;27222887		False	2	0;0;0	1.152	False		ENSG00000141404	ENSG00000141404	HGNC:4388													
TAF1	gene	TAF1	Emory Genetics Laboratory;Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen	Early onset dystonia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Dystonia-Parkinsonism, X-linked, 314250;(NB complex mutation)				http://www.ncbi.nlm.nih.gov/books/NBK1155/;PMID: 2368812;PMID: 12928496;PMID: 17273961;PMID: 26879577;PMID: 26769797;PMID: 26637982;PMID: 23184149		False	2	100;0;0	1.152	False		ENSG00000147133	ENSG00000147133	HGNC:11535													
VPS11	gene	VPS11	Expert Review Amber;Literature	Early onset dystonia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Dystonia 32, OMIM:619637;dystonia 32, MONDO:0030486				33452836;27120463;27473128;33871597		False	2	50;50;0	1.152	False		ENSG00000160695	ENSG00000160695	HGNC:14583													
