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
AIRE	gene	AIRE	Expert Review Red;UKGTN	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia	240300"						False	1	0;0;100	1.30	False		ENSG00000160224	ENSG00000160224	HGNC:360													
DSP	gene	DSP	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ectodermal Dysplasia/Skin Fragility Syndrome						False	1	0;0;100	1.30	False		ENSG00000096696	ENSG00000096696	HGNC:3052													
GJB2	gene	GJB2	Expert Review Red;Literature	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	Unknown	clouston syndrome				25808784;2681028;25575739;15757815		False	1	0;0;0	1.30	False		ENSG00000165474	ENSG00000165474	HGNC:4284													
IFT122	gene	IFT122	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 1, 218330;Cranioectodermal Dysplasia						False	1	0;0;100	1.30	False		ENSG00000163913	ENSG00000163913	HGNC:13556													
IFT43	gene	IFT43	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 3, 614099;Cranioectodermal Dysplasia						False	1	0;0;100	1.30	False		ENSG00000119650	ENSG00000119650	HGNC:29669													
KREMEN1	gene	KREMEN1	Expert Review Red;Other	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ectodermal dysplasia 13, hair/tooth type, 617392				27049303		False	1	0;0;0	1.30	False		ENSG00000183762	ENSG00000183762	HGNC:17550													
WDR19	gene	WDR19	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy 5, 614376; Nephronophthisis 13, 614377; Cranioectodermal dysplasia 4, 614378;Cranioectodermal Dysplasia						False	1	0;0;100	1.30	False		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR35	gene	WDR35	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Ectodermal dysplasia without a known gene mutation	Ectodermal dysplasias	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 2, 613610; Short rib-polydactyly syndrome, type V, 614091;Cranioectodermal Dysplasia						False	1	0;0;100	1.30	False		ENSG00000118965	ENSG00000118965	HGNC:29250