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
LAT	gene	LAT	Expert Review Amber;Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 52, 617514				27522155; 27242165		False	2	0;0;0	1.182	False		ENSG00000213658	ENSG00000213658	HGNC:18874													
ORAI1	gene	ORAI1	BRIDGE Study Tier 1 Gene;Expert Review Amber	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Stormorken syndrome						False	2	50;50;0	1.182	False		ENSG00000182500	ENSG00000276045	HGNC:25896													
PTPRJ	gene	PTPRJ	Expert Review Amber;Literature	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia;spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.				30591527		False	2	0;100;0	1.182	False		ENSG00000149177	ENSG00000149177	HGNC:9673													
SLC35A1	gene	SLC35A1	Expert Review Amber;Literature	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIf, 603585;severe thrombocytopenia;hemorrhages;macrothrombocytopenia				15576474;30115659		False	2	0;100;0	1.182	False		ENSG00000164414	ENSG00000164414	HGNC:11021													
TPM4	gene	TPM4	BRIDGE Study Tier 1 Gene;Expert Review Amber	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Platelet disorder;Macrothrombocytopenia				28134622		False	2	50;50;0	1.182	False		ENSG00000167460	ENSG00000167460	HGNC:12013