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
SH2D1A	gene	SH2D1A	Expert Review Green;NHS GMS	Lymphoproliferative syndrome with absent SAP expression		Immunology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lymphoproliferative syndrome, X-linked, 1, OMIM:308240;X-linked lymphoproliferative disease due to SH2D1A deficiency, MONDO:0024551						False	3	100;0;0	1.3	False		ENSG00000183918	ENSG00000183918	HGNC:10820													
