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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 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 1.4 False ENSG00000232810 ENSG00000232810 HGNC:11892