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
FDPS	gene	FDPS	Expert Review Green;Other;Radboud University Medical Center, Nijmegen	Familial disseminated superficial actinic porokeratosis	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porokeratosis 9, multiple types, 616631;DSAP/DSP;actinic or nonactinic disseminated superficial porokeratosis;POROK9				26202976;26816331 (correction for PMID:26202976);27422687		False	3	0;0;100	1.4	False		ENSG00000160752	ENSG00000160752	HGNC:3631													
MVD	gene	MVD	Expert Review Green;Other;Radboud University Medical Center, Nijmegen	Familial disseminated superficial actinic porokeratosis	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porokeratosis 7, multiple types, OMIM:614714				26202976;26816331 (correction for PMID:26202976);28777842		False	3	0;0;100	1.4	False		ENSG00000167508	ENSG00000167508	HGNC:7529													
MVK	gene	MVK	Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN	Familial disseminated superficial actinic porokeratosis	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Porokeratosis 3, multiple types, OMIM:175900				22983302;24781643;26202976;26816331 (correction for PMID:26202976);26794421;28543715		False	3	50;50;0	1.4	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
SART3	gene	SART3	Expert Review Amber;Radboud University Medical Center, Nijmegen	Familial disseminated superficial actinic porokeratosis	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	disseminated superficial actinic porokeratosis; DSAP				15840095		False	2	0;100;0	1.4	False		ENSG00000075856	ENSG00000075856	HGNC:16860													
SLC17A9	gene	SLC17A9	Expert Review Amber;Other;Radboud University Medical Center, Nijmegen	Familial disseminated superficial actinic porokeratosis	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porokeratosis 8, disseminated superficial actinic type, 616063;disseminated superficial actinic porokeratosis-8;POROK8;Disseminated superficial actinic porokeratosis (DSAP)				25180256;25596766 (article in French)		False	2	0;50;50	1.4	False		ENSG00000101194	ENSG00000101194	HGNC:16192													
