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
APOLD1	gene	APOLD1	Literature	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	inherited bleeding disorder				35638551		False	1	0;50;50	4.6	False		ENSG00000178878	ENSG00000178878	HGNC:25268													
ITGA2	gene	ITGA2	Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal	614200 ?Glycoprotein Ia deficiency				10590055		False	1	40;40;20	4.6	False		ENSG00000164171	ENSG00000164171	HGNC:6137													
MAST2	gene	MAST2	Expert Review Red;Literature	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Venous thromboembolism;Thrombophilia				33465109		False	1	0;0;100	4.6	False		ENSG00000086015	ENSG00000086015	HGNC:19035													
NBEA	gene	NBEA	Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					28748566		False	1	40;40;20	4.6	False		ENSG00000172915	ENSG00000172915	HGNC:7648													
PRKACG	gene	PRKACG	Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal	?Bleeding disorder, platelet-type, 19, OMIM:616176;Platelet-type bleeding disorder 19, MONDO:0014518				25061177;30819905		False	1	57;14;29	4.6	False		ENSG00000165059	ENSG00000165059	HGNC:9382													
STX11	gene	STX11	Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal					28399723		False	1	25;50;25	4.6	False		ENSG00000135604	ENSG00000135604	HGNC:11429													
TLN1	gene	TLN1	Literature	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	thrombocytopenia, MONDO:0002049				35861643		False	1	0;0;100	4.6	False		ENSG00000137076	ENSG00000137076	HGNC:11845