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
ARHGAP36	gene	ARHGAP36	Expert Review;Expert Review Amber	Ectodermal Dysplasia		Dermatological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Bazex-Dupre-Christol syndrome, MIM# 301845			Ectodermal dysplasia;HP:0000968	35986704;40015599		False	2	0;100;0	0.112	True	Other	ENSG00000147256	ENSG00000147256	HGNC:26388													
AXIN2	gene	AXIN2	Expert Review;Expert Review Amber	Ectodermal Dysplasia		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Oligodontia-colorectal cancer syndrome, MIM# 608615			Ectodermal dysplasia;HP:0000968	15042511;21626677;21416598;34637023		False	2	0;100;0	0.112	True		ENSG00000168646	ENSG00000168646	HGNC:904													
DNA2	gene	DNA2	Expert Review Amber;Literature	Ectodermal Dysplasia		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated			Ectodermal dysplasia;HP:0000968	37055165		False	2	0;100;0	0.112	True		ENSG00000138346	ENSG00000138346	HGNC:2939													
ICK	gene	ICK	Expert Review Amber;Literature	Ectodermal Dysplasia		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 6, MIM# 621337			Ectodermal dysplasia;HP:0000968	PMID: 40615527, 24797473		False	2	0;100;0	0.112	True		ENSG00000112144	ENSG00000112144	HGNC:21219													
IFT43	gene	IFT43	Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Ectodermal Dysplasia		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 3 MIM#614099			Ectodermal dysplasia;HP:0000968	21378380;29896747		False	2	50;50;0	0.112	True		ENSG00000119650	ENSG00000119650	HGNC:29669													
MBTPS1	gene	MBTPS1	Expert list;Expert Review Amber	Ectodermal Dysplasia		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	"CAOP syndrome, MIM#	621252"			Ectodermal dysplasia;HP:0000968	35362222		False	2	0;100;0	0.112	True		ENSG00000140943	ENSG00000140943	HGNC:15456