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
AP1B1	gene	AP1B1	Expert Review Amber;Literature	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781				31630791;31630788;33452671;33349978;32969855;35144013		False	2	100;0;0	4.9	False		ENSG00000100280	ENSG00000100280	HGNC:554													
FAM83G	gene	FAM83G	Expert Review Amber;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Palmoplantar keratoderma				29138053;31656861;29963719		False	2	0;50;50	4.9	False		ENSG00000188522	ENSG00000188522	HGNC:32554													
NECTIN4	gene	NECTIN4	Expert Review Amber;Other	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573;ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565				20691405;21346770;34067522;37183149;37829154		False	2	100;0;0	4.9	False		ENSG00000143217	ENSG00000143217	HGNC:19688													
