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;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Darier disease, MIM# 124200;Acrokeratosis verruciformis, MIM# 101900			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	10441325;12072062;10970890;11389134		False	3	100;0;0	0.33	True		ENSG00000174437	ENSG00000174437	HGNC:812													
CDSN	gene	CDSN	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Peeling skin syndrome 1 MIM#270300;ichthyosiform erythroderma			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	24794518;18436651;20691404;21191406		False	3	100;0;0	0.33	True		ENSG00000204539	ENSG00000204539	HGNC:1802													
DSC2	gene	DSC2	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	18957847;23863954		False	3	100;0;0	0.33	True		ENSG00000134755	ENSG00000134755	HGNC:3036													
DSG1	gene	DSG1	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		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; Alopecia;HP:0001596	19558595;29315490;31192455;23974871;29229434;33666035		False	3	100;0;0	0.33	True		ENSG00000134760	ENSG00000134760	HGNC:3048													
DSG4	gene	DSG4	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotrichosis 6, MIM#607903			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	12705872;16439973;16543896;16575393;17392831		False	3	100;0;0	0.33	True		ENSG00000175065	ENSG00000175065	HGNC:21307													
DSP	gene	DSP	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	Unknown				Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596			False	3	0;0;0	0.33	False		ENSG00000096696	ENSG00000096696	HGNC:3052													
EDA	gene	EDA	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100;Tooth agenesis, selective, X-linked 1 MIM#313500			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	27144394;8696334;9507389;9683615;18657636		False	3	100;0;0	0.33	True		ENSG00000158813	ENSG00000158813	HGNC:3157													
EDAR	gene	EDAR	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884;autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	10431241;20301291;16435307;20979233;23401279;18384562		False	3	100;0;0	0.33	True		ENSG00000135960	ENSG00000135960	HGNC:2895													
EDARADD	gene	EDARADD	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884;autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	20301291;34219261;11780064;26991760;34573371;20979233;17354266;26440664		False	3	100;0;0	0.33	False		ENSG00000186197	ENSG00000186197	HGNC:14341													
JUP	gene	JUP	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	Unknown				Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596			False	3	100;0;0	0.33	False		ENSG00000173801	ENSG00000173801	HGNC:6207													
PKP1	gene	PKP1	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ectodermal dysplasia/skin fragility syndrome, MIM# 604536			Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596	24073657;16781314;11994137;10951270;32346906		False	3	100;0;0	0.33	True		ENSG00000081277	ENSG00000081277	HGNC:9023													
TP63	gene	TP63	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	Unknown				Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596			False	3	0;0;0	0.33	False		ENSG00000073282	ENSG00000073282	HGNC:15979													
WNT10A	gene	WNT10A	Expert Review Green;Victorian Clinical Genetics Services	Desmosomal disorders		Dermatological disorders	Unknown				Abnormal blistering of the skin;HP:0008066; Alopecia;HP:0001596			False	3	100;0;0	0.33	False		ENSG00000135925	ENSG00000135925	HGNC:13829