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
IL17RA	gene	IL17RA	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 51, OMIM:613953				32098966		False	2	100;0;0	2.39	False		ENSG00000177663	ENSG00000177663	HGNC:5985													
ITCH	gene	ITCH	Expert Review Amber;Other	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385;syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245				18727493;20170897;30705142;31091003;33894394;36338154		False	2	100;0;0	2.39	False		ENSG00000078747	ENSG00000078747	HGNC:13890													
OGFRL1	gene	OGFRL1	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Cherubism				38699440		False	2	0;100;0	2.39	False		ENSG00000119900	ENSG00000119900	HGNC:21378													
PRF1	gene	PRF1	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553				32098966;24753205;22248322;28468610;27269180		False	2	0;0;0	2.39	False		ENSG00000180644	ENSG00000180644	HGNC:9360													
PSMB10	gene	PSMB10	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Immunodeficiency 121 with autoinflammation, OMIM:620807;Proteasome-associated autoinflammatory syndrome 5, OMIM:619175				31783057;36250618;37600812;38503300;39734035		False	2	100;0;0	2.39	False		ENSG00000205220	ENSG00000205220	HGNC:9538													
PTPN1	gene	PTPN1	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215				10066179;39986310		False	2	100;0;0	2.39	False		ENSG00000196396	ENSG00000196396	HGNC:9642