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	Dystonia - childhood onset			Unknown	Dystonia 23, 614860						False	2	0;0;0	1.14	False		ENSG00000148337	ENSG00000148337	HGNC:16744													
GFAP	gene	GFAP	Expert Review Amber	Dystonia - childhood onset			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Alexander disease 203450				15732098;14557587		False	2	0;0;0	1.14	False		ENSG00000131095	ENSG00000131095	HGNC:4235													
GNAL	gene	GNAL	Expert Review Amber	Dystonia - childhood onset			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dystonia 25, 615073				23222958;27093447;27222887;24729450;26725140;27123488;24151159;23449625;25847575;20301334;26810727;24408567;23759320;26365774;26506956;25382112;24535567		False	2	0;0;0	1.14	False		ENSG00000141404	ENSG00000141404	HGNC:4388													
KCNK18	gene	KCNK18	Expert Review Amber	Dystonia - childhood onset			Unknown	MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13				20871611;22355750		False	2	0;0;0	1.14	False		ENSG00000186795	ENSG00000186795	HGNC:19439													
TAF1	gene	TAF1	Expert Review Amber	Dystonia - childhood onset			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)				12928496;23184149;26879577;26637982;2368812;20301334;17273961;26769797		False	2	0;0;0	1.14	False		ENSG00000147133	ENSG00000147133	HGNC:11535													
