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
NCSTN	gene	NCSTN	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acne inversa, familial, 1, 142690;hidradenitis suppurativa				26663538;26463457;26224166;22834455;22759192;20929727;22622421		False	3	100;0;0	1.5	False		ENSG00000162736	ENSG00000162736	HGNC:17091													
PSEN1	gene	PSEN1	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acne inversa, familial, 3, 613737				20929727		False	3	100;0;0	1.5	False		ENSG00000080815	ENSG00000080815	HGNC:9508													
PSENEN	gene	PSENEN	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acne inversa, familial, 2, 613736;Acne inversa (AI); hidradenitis suppurativa				27900998;21412258;20929727		False	3	100;0;0	1.5	False		ENSG00000205155	ENSG00000205155	HGNC:30100													
FGFR2	gene	FGFR2	Expert Review Amber;Literature	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nevus comedonicus, multifocal hidradenitis suppurativa and acne				28293556		False	2	0;100;0	1.5	False		ENSG00000066468	ENSG00000066468	HGNC:3689													
GJB2	gene	GJB2	Expert Review Amber;Literature	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)				16172043; 15337980		False	2	0;100;0	1.5	False		ENSG00000165474	ENSG00000165474	HGNC:4284													
PSTPIP1	gene	PSTPIP1	Expert Review Amber;Literature	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416				21745697; 23571383; 25501066		False	2	0;100;0	1.5	False		ENSG00000140368	ENSG00000140368	HGNC:9580													
IL12RB1	gene	IL12RB1	Expert Review Red;Literature	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	Unknown	modification of hidradenitis suppurativa phenotype				23557799		False	1	0;0;100	1.5	False		ENSG00000096996	ENSG00000096996	HGNC:5971													
IL22	gene	IL22	Expert Review Red;Other	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	Unknown	acne inversa (AI) 				21148041		False	1	0;0;100	1.5	False		ENSG00000127318	ENSG00000127318	HGNC:14900													
KRT17	gene	KRT17	Expert Review Red;Other	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pachyonychia congenita 2, OMIM:167210;Pachyonychia congenita with hidradenitis suppurativa				2248894; 10571744; 8288793		False	1	0;0;100	1.5	False		ENSG00000128422	ENSG00000128422	HGNC:6427													
MEFV	gene	MEFV	Expert Review Red;Literature	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mediterranean fever with hidradenitis suppurativa;Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100				28194777; 27238193 		False	1	0;0;100	1.5	False		ENSG00000103313	ENSG00000103313	HGNC:6998													
TNF	gene	TNF	Expert Review Red;Literature	Familial hidradenitis suppurativa	Skin adnexa disorders	Dermatological disorders	Unknown	predisposition to hidradenitis suppurativa				23106544		False	1	0;0;100	1.5	False		ENSG00000232810	ENSG00000232810	HGNC:11892