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
C17orf62	gene	C17orf62	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease			Recurrent bacterial infections;HP:0002718	30361506;30312704		False	3	100;0;0	1.3	True		ENSG00000178927	ENSG00000178927	HGNC:28672													
CYBA	gene	CYBA	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690			Recurrent bacterial infections;HP:0002718	2770793		False	3	100;0;0	1.3	True		ENSG00000051523	ENSG00000051523	HGNC:2577													
CYBB	gene	CYBB	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chronic granulomatous disease, X-linked MIM#306400			Recurrent bacterial infections;HP:0002718	2556453;1710153;9585602		False	3	100;0;0	1.3	True		ENSG00000165168	ENSG00000165168	HGNC:2578													
G6PD	gene	G6PD	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Hemolytic anemia, G6PD deficient (favism) MIM#300908			Recurrent bacterial infections;HP:0002718	34175765;27458052		False	3	100;0;0	1.3	True		ENSG00000160211	ENSG00000160211	HGNC:4057													
NCF1	gene	NCF1	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease 1, autosomal recessive, MIM# 233700			Recurrent bacterial infections;HP:0002718	2011585;11133775;10706888;16972229;16972229		False	3	100;0;0	1.3	True		ENSG00000158517	ENSG00000158517	HGNC:7660													
NCF2	gene	NCF2	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710			Recurrent bacterial infections;HP:0002718	7795241;10498624		False	3	100;0;0	1.3	True		ENSG00000116701	ENSG00000116701	HGNC:7661													
NCF4	gene	NCF4	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960			Recurrent bacterial infections;HP:0002718			False	3	100;0;0	1.3	False		ENSG00000100365	ENSG00000100365	HGNC:7662													
NOD2	gene	NOD2	Expert list;Expert Review Green	Chronic granulomatous disease		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Blau syndrome MIM#186580;granulomatous disease			Recurrent bacterial infections;HP:0002718	26164256		False	3	100;0;0	1.3	True		ENSG00000167207	ENSG00000167207	HGNC:5331