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
CACNA1B	gene	CACNA1B	Expert Review Red;Other	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myoclonus-dystonia syndrome MONDO:0000903			Dystonia;HP:0001332	25296916;26157024;35698023;33051750;35041927		False	1	0;0;100	1.37	True		ENSG00000148408	ENSG00000148408	HGNC:1389													
DRD2	gene	DRD2	Expert Review Red;Literature	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Combined dystonia, MONDO:0020065, DRD2-related;dystonia;chorea;anxiety;ataxia;orofacial dyskinesia;tremor;memory problems			Dystonia;HP:0001332	33200438		False	1	100;0;0	1.37	True	Other	ENSG00000149295	ENSG00000149295	HGNC:3023													
PODXL	gene	PODXL	Expert list;Expert Review Red	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	juvenile-onset Parkinson disease			Dystonia;HP:0001332	26864383		False	1	0;0;100	1.37	True		ENSG00000128567	ENSG00000128567	HGNC:9171													
RELN	gene	RELN	Expert Review Red;Other	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myoclonus-dystonia syndrome MONDO:0000903			Dystonia;HP:0001332	32334381;25648840		False	1	0;0;100	1.37	True		ENSG00000189056	ENSG00000189056	HGNC:9957													
VPS11	gene	VPS11	Expert Review Red;Literature	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia 32, MIM# 619637;Dystonia, adult-onset			Dystonia;HP:0001332	33452836		False	1	0;0;100	1.37	True		ENSG00000160695	ENSG00000160695	HGNC:14583