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 ATP2A2 gene ATP2A2 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Darier disease (MIM#124200)" Abnormal blistering of the skin;HP:0008066 10441324;17635506 False 3 100;0;0 1.20 True ENSG00000174437 ENSG00000174437 HGNC:812 ATP2C1 gene ATP2C1 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hailey-Hailey disease (MIM# 169600)" Abnormal blistering of the skin;HP:0008066 28551824 False 3 100;0;0 1.20 True ENSG00000017260 ENSG00000017260 HGNC:13211 CAST gene CAST Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295) Abnormal blistering of the skin;HP:0008066 25683118 False 3 100;0;0 1.20 True ENSG00000153113 ENSG00000153113 HGNC:1515 CD151 gene CD151 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Abnormal blistering of the skin;HP:0008066 15265795;29138120 False 3 100;0;0 1.20 True ENSG00000177697 ENSG00000177697 HGNC:1630 CDSN gene CDSN Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 1 (MIM#270300)" Abnormal blistering of the skin;HP:0008066 23957618;20691404;21191406;25473393 False 3 100;0;0 1.20 True ENSG00000204539 ENSG00000204539 HGNC:1802 COL17A1 gene COL17A1 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, localisata variant, MIM# 226650;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650;Epithelial recurrent erosion dystrophy, MIM# 122400 Abnormal blistering of the skin;HP:0008066 False 3 100;0;0 1.20 True ENSG00000065618 ENSG00000065618 HGNC:2194 COL7A1 gene COL7A1 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal EBD inversa, MIM# 226600;EBD, Bart type MIM# 132000;EBD, localisata variant;Epidermolysis bullosa dystrophica, MIM# 131750;Epidermolysis bullosa dystrophica, 226600;Epidermolysis bullosa pruriginosa 604129;Epidermolysis bullosa, pretibial, MIM# 131850;Transient bullous of the newborn 131705 Abnormal blistering of the skin;HP:0008066 False 3 100;0;0 1.20 True ENSG00000114270 ENSG00000114270 HGNC:2214 CSTA gene CSTA Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 4 (MIM#607936)" Abnormal blistering of the skin;HP:0008066 23534700;25400170;21944047 False 3 100;0;0 1.20 True ENSG00000121552 ENSG00000121552 HGNC:2481 DSG1 gene DSG1 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508);Keratosis palmoplantaris striata I, AD (MIM# 148700) Abnormal blistering of the skin;HP:0008066 19558595;23974871;29229434 False 3 50;50;0 1.20 True ENSG00000134760 ENSG00000134760 HGNC:3048 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, lethal acantholytic, MIM# 609638 Abnormal blistering of the skin;HP:0008066 16175511;20302578;20302578;28442525;20613772;20302578 False 3 100;0;0 1.20 True ENSG00000096696 ENSG00000096696 HGNC:3052 DST gene DST Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425 Abnormal blistering of the skin;HP:0008066 20164846;22113475;33471381 False 3 100;0;0 1.20 True ENSG00000151914 ENSG00000151914 HGNC:1090 EXPH5 gene EXPH5 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028 Abnormal blistering of the skin;HP:0008066 23176819;32176379;27730671;27384765 False 3 100;0;0 1.20 True ENSG00000110723 ENSG00000110723 HGNC:30578 FERMT1 gene FERMT1 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Kindler syndrome, MIM# 173650 Abnormal blistering of the skin;HP:0008066 12789646 False 3 100;0;0 1.20 True ENSG00000101311 ENSG00000101311 HGNC:15889 FLG2 gene FLG2 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 6, MIM# 618084" Abnormal blistering of the skin;HP:0008066 29758285;28884927;29505760 False 3 100;0;0 1.20 True ENSG00000143520 ENSG00000143520 HGNC:33276 IKBKG gene IKBKG Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders Other Incontinentia pigmenti (MIM#308300) Abnormal blistering of the skin;HP:0008066 12588226;30151858;10839543;11673821 False 3 100;0;0 1.20 True ENSG00000073009 ENSG00000269335 HGNC:5961 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Abnormal blistering of the skin;HP:0008066 22512483;25810266;27717396;32198874;26854491 False 3 100;0;0 1.20 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730 Abnormal blistering of the skin;HP:0008066 31502654;27607025;9158140 False 3 100;0;0 1.20 True ENSG00000091409 ENSG00000091409 HGNC:6142 ITGB4 gene ITGB4 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epidermolysis bullosa of hands and feet, MIM# 131800;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650;Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 Abnormal blistering of the skin;HP:0008066 11328943;9670011;33225458;30079450;29380424;29198538;28557647 False 3 100;0;0 1.20 True ENSG00000132470 ENSG00000132470 HGNC:6158 KLHL24 gene KLHL24 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294 Abnormal blistering of the skin;HP:0008066 27889062;27798626 False 3 100;0;0 1.20 True ENSG00000114796 ENSG00000114796 HGNC:25947 KRT1 gene KRT1 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epidermolytic hyperkeratosis (MIM#113800;Epidermolytic ichthyosis Abnormal blistering of the skin;HP:0008066 7511022;21271994 False 3 100;0;0 1.20 True ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolytic hyperkeratosis (MIM#113800);Ichthyosis with confetti (MIM#609165);Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602) Abnormal blistering of the skin;HP:0008066 1380725;1381287;7508181;20798280;16505000;18219278;19474805 False 3 100;0;0 1.20 True ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epidermolysis bullosa simplex, recessive 1, 601001;Dermatopathia pigmentosa reticularis, 125595;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800;Naegeli-Franceschetti-Jadassohn syndrome, 161000 Abnormal blistering of the skin;HP:0008066 16960809;18049449 False 3 100;0;0 1.20 True Other ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 Expert Review Green;Other Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 1 (MIM#167200) Abnormal blistering of the skin;HP:0008066 16250206 False 3 100;0;0 1.20 True Other ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 Expert Review Green;Other Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 2 (MIM#167210) Abnormal blistering of the skin;HP:0008066 11886499;21326300 False 3 100;0;0 1.20 True Other ENSG00000128422 ENSG00000128422 HGNC:6427 KRT2 gene KRT2 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Superficial epidermolytic ichthyosis (SEI) (MIM#146800) Abnormal blistering of the skin;HP:0008066 26581228;22612346 False 3 100;0;0 1.20 True ENSG00000172867 ENSG00000172867 HGNC:6439 KRT5 gene KRT5 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dowling-Degos disease 1, MIM# 179850;Epidermolysis bullosa simplex-MCR, MIM# 609352;Epidermolysis bullosa simplex-MP 131960;Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760;Epidermolysis bullosa simplex, Koebner type, MIM# 131900;Epidermolysis bullosa simplex, recessive 1, MIM# 601001;Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800 Abnormal blistering of the skin;HP:0008066 False 3 100;0;0 1.20 True ENSG00000186081 ENSG00000186081 HGNC:6442 KRT6A gene KRT6A Expert Review Green;Other Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 3 MIM#615726 Abnormal blistering of the skin;HP:0008066 32017015;21326300 False 3 100;0;0 1.20 True Other ENSG00000205420 ENSG00000205420 HGNC:6443 KRT6B gene KRT6B Expert Review Green;Other Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 4 MIM#615728 Abnormal blistering of the skin;HP:0008066 24611874;21326300 False 3 100;0;0 1.20 True Other ENSG00000185479 ENSG00000185479 HGNC:6444 KRT6C gene KRT6C Expert Review Green;Other Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735) Abnormal blistering of the skin;HP:0008066 31823354;23662636 False 3 100;0;0 1.20 True Other ENSG00000170465 ENSG00000170465 HGNC:20406 LAMA3 gene LAMA3 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Epidermolysis bullosa, junctional 2A, intermediate MIM#619783;Epidermolysis bullosa, junctional 2B, severe MIM#619784;Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660" Abnormal blistering of the skin;HP:0008066 7633458;8530087;11810295;10366601 False 3 100;0;0 1.20 True ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB3 gene LAMB3 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Abnormal blistering of the skin;HP:0008066 11023379;7706760 False 3 100;0;0 1.20 True ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Abnormal blistering of the skin;HP:0008066 11810295;25888738;24533970 False 3 100;0;0 1.20 True ENSG00000058085 ENSG00000058085 HGNC:6493 PKP1 gene PKP1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/skin fragility syndrome, MIM# 604536 Abnormal blistering of the skin;HP:0008066 24073657;16781314;11994137;10951270;32346906 False 3 100;0;0 1.20 True ENSG00000081277 ENSG00000081277 HGNC:9023 PLEC gene PLEC Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670;Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138;Epidermolysis bullosa simplex, Ogna type, MIM# 131950 Abnormal blistering of the skin;HP:0008066 False 3 100;0;0 1.20 True ENSG00000178209 ENSG00000178209 HGNC:9069 SLC39A4 gene SLC39A4 Expert Review Green;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica (MIM#201100) Abnormal blistering of the skin;HP:0008066 19370757 False 3 100;0;0 1.20 True ENSG00000147804 ENSG00000147804 HGNC:17129 SPINK5 gene SPINK5 Expert Review Green;Other Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome (MIM#256500) Abnormal blistering of the skin;HP:0008066 19683336 False 3 100;0;0 1.20 True ENSG00000133710 ENSG00000133710 HGNC:15464 TGM5 gene TGM5 Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, MIM# 609796 Abnormal blistering of the skin;HP:0008066 16380904 False 3 100;0;0 1.20 True ENSG00000104055 ENSG00000104055 HGNC:11781 CSTB gene CSTB Expert Review Amber;Literature Epidermolysis bullosa Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Keratolytic winter erythema (MIM#148370)" Abnormal blistering of the skin;HP:0008066 28457472 False 2 0;100;0 1.20 True ENSG00000160213 ENSG00000160213 HGNC:2482 DSC3 gene DSC3 Expert Review Amber;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Hypotrichosis and recurrent skin vesicles (MIM# 613102)" Abnormal blistering of the skin;HP:0008066 19765682;20159115;24690439;31790667 False 2 0;100;0 1.20 True ENSG00000134762 ENSG00000134762 HGNC:3037 JUP gene JUP Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Naxos disease MIM#601214;Congenital epidermolysis bullosa Abnormal blistering of the skin;HP:0008066 21320868;29173316 False 2 50;50;0 1.20 True ENSG00000173801 ENSG00000173801 HGNC:6207 PLOD3 gene PLOD3 Expert Review Amber;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Blistering skin lesions Abnormal blistering of the skin;HP:0008066 18834968;30463024 False 2 0;100;0 1.20 True ENSG00000106397 ENSG00000106397 HGNC:9083 SERPINB8 gene SERPINB8 Expert list;Expert Review Amber Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 5 (MIM#617115) Abnormal blistering of the skin;HP:0008066 27476651 False 2 0;100;0 1.20 True ENSG00000166401 ENSG00000166401 HGNC:8952 TUFT1 gene TUFT1 Expert Review;Expert Review Amber;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Woolly hair-skin fragility syndrome, MIM# 620415 Abnormal blistering of the skin;HP:0008066 36689522;36928819 False 2 0;100;0 1.20 False ENSG00000143367 ENSG00000143367 HGNC:12422 DSG3 gene DSG3 Expert list;Expert Review Red Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226 Abnormal blistering of the skin;HP:0008066 30528827 False 1 0;0;100 1.20 True ENSG00000134757 ENSG00000134757 HGNC:3050 KDSR gene KDSR Expert Review Red;Victorian Clinical Genetics Services Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4 MIM#617526 Abnormal blistering of the skin;HP:0008066 False 1 0;0;100 1.20 True ENSG00000119537 ENSG00000119537 HGNC:4021 SLC39A7 gene SLC39A7 Expert Review Red;Literature Epidermolysis bullosa Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 9, autosomal recessive, MIM# 619693;Absent B cells;Agammaglobulinemia;Early onset infections Abnormal blistering of the skin;HP:0008066 30718914 False 1 0;0;100 1.20 True ENSG00000112473 ENSG00000112473 HGNC:4927