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
ACTA2	gene	ACTA2	Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Moyamoya disease 5;Moyamoya Disease;Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834						False	2	0;0;0	0.34	False		ENSG00000107796	ENSG00000107796	HGNC:130													
NOTCH3	gene	NOTCH3	Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy;Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)						False	2	0;0;0	0.34	False		ENSG00000074181	ENSG00000074181	HGNC:7883