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
CST3	gene	CST3	Expert list;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cerebral amyloid angiopathy, OMIM:105150						False	1	100;0;0	1.18	True		ENSG00000101439	ENSG00000101439	HGNC:2475													
FOXF2	gene	FOXF2	Literature	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Small vessel stroke				27068588		False	1	0;0;100	1.18	False		ENSG00000137273	ENSG00000137273	HGNC:3810													
ITM2B	gene	ITM2B	Expert list;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"ischaemic stroke;haemorrhagic stroke;stroke;spastic tetraparesis;tetraparesis;ementia, familial British	176500;Dementia, familial Danish	117300"				10775542;11193180;10391242;10781099		False	1	100;0;0	1.18	True		ENSG00000136156	ENSG00000136156	HGNC:6174													
SCN1A	gene	SCN1A	Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cerebral small vessel disease;Dravet syndrome	607208;Epilepsy, generalized, with febrile seizures plus, type 2	604403;Febrile seizures, familial, 3A	604403;Migraine, familial hemiplegic, 3	609634"						False	1	0;0;100	1.18	True		ENSG00000144285	ENSG00000144285	HGNC:10585													
