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
CACNA1C	gene	CACNA1C	Expert Review;Expert Review Red	Short QT syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome			Shortened QT interval;HP:0012232	PMID: 34557911		False	1	0;0;100	1.7	True		ENSG00000151067	ENSG00000151067	HGNC:1390													
CACNA2D1	gene	CACNA2D1	Expert Review;Expert Review Red	Short QT syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome			Shortened QT interval;HP:0012232	PMID: 34557911		False	1	0;0;100	1.7	True		ENSG00000153956	ENSG00000153956	HGNC:1399													
CACNB2	gene	CACNB2	Expert Review;Expert Review Red	Short QT syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome 1			Shortened QT interval;HP:0012232	PMID: 34557911		False	1	0;0;100	1.7	True		ENSG00000165995	ENSG00000165995	HGNC:1402													
SCN5A	gene	SCN5A	Expert Review;Expert Review Red	Short QT syndrome		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short QT syndrome			Shortened QT interval;HP:0012232	PMID: 34557911		False	1	0;0;100	1.7	True		ENSG00000183873	ENSG00000183873	HGNC:10593													
SLC22A5	gene	SLC22A5	Expert Review;Expert Review Red	Short QT syndrome		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Short QT syndrome			Shortened QT interval;HP:0012232	PMID: 34557911		False	1	0;0;100	1.7	True		ENSG00000197375	ENSG00000197375	HGNC:10969													
