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
ABCC6	gene	ABCC6	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000091262	ENSG00000091262	HGNC:57													
ATP7A	gene	ATP7A	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)							False	1	0;0;0	0.34	False		ENSG00000165240	ENSG00000165240	HGNC:869													
BRCC3	gene	BRCC3	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)							False	1	0;0;0	0.34	False		ENSG00000185515	ENSG00000185515	HGNC:24185													
ELN	gene	ELN	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000049540	ENSG00000049540	HGNC:3327													
GLA	gene	GLA	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
GUCY1A3	gene	GUCY1A3	Expert list;Other;Radboud University Medical Center, Nijmegen	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Moyamoya 6 with achalasia;Moyamoya 6 with achalasia, 615750						False	1	0;0;0	0.34	False		ENSG00000164116	ENSG00000164116	HGNC:4685													
HLA-B	gene	HLA-B	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown					PMID: 21349441;14676447		False	1	0;0;0	0.34	False		ENSG00000234745	ENSG00000234745	HGNC:4932													
HLA-DQB1	gene	HLA-DQB1	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown					PMID: 21349441; 9409445		False	1	0;0;0	0.34	False		ENSG00000179344	ENSG00000179344	HGNC:4944													
HLA-DRB1	gene	HLA-DRB1	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown					PMID: 7886716; 21349441		False	1	0;0;0	0.34	False		ENSG00000196126	ENSG00000196126	HGNC:4948													
HTRA1	gene	HTRA1	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000166033	ENSG00000166033	HGNC:9476													
JAG1	gene	JAG1	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000101384	ENSG00000101384	HGNC:6188													
NF1	gene	NF1	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
PCNT	gene	PCNT	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000160299	ENSG00000160299	HGNC:16068													
RNF213	gene	RNF213	Expert list;Other	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown	{Moyamoya disease 2, susceptibility to} 607151						False	1	0;0;0	0.34	False		ENSG00000173821	ENSG00000173821	HGNC:14539													
SAMHD1	gene	SAMHD1	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;0	0.34	False		ENSG00000101347	ENSG00000101347	HGNC:15925													
SLC2A10	gene	SLC2A10	Expert list	Moyamoya disease	Cerebrovascular disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome						False	1	0;0;0	0.34	False		ENSG00000197496	ENSG00000197496	HGNC:13444