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
ALDH1L2	gene	ALDH1L2	Expert Review Red;Literature	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks				31341639;33168096		False	1	0;0;100	4.12	False		ENSG00000136010	ENSG00000136010	HGNC:26777													
DES	gene	DES	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Striate keratoderma with woolly hair;Cardiomyopathy, dilated, 1I						False	1	0;0;100	4.12	False		ENSG00000175084	ENSG00000175084	HGNC:2770													
DSG2	gene	DSG2	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB;Striate keratoderma with woolly hair						False	1	0;0;100	4.12	False		ENSG00000046604	ENSG00000046604	HGNC:3049													
ELOVL4	gene	ELOVL4	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 34 133190				24566826;26010696		False	1	0;0;100	4.12	False		ENSG00000118402	ENSG00000118402	HGNC:14415													
KANK2	gene	KANK2	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	PPKWH;Palmoplantar keratoderma and woolly hair, 616099				24671081		False	1	0;100;0	4.12	False		ENSG00000197256	ENSG00000197256	HGNC:29300													
LIPH	gene	LIPH	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology		Woolly hair/hypotrichosis syndrome						False	1	0;0;100	4.12	False		ENSG00000163898	ENSG00000163898	HGNC:18483													
LIPN	gene	LIPN	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 8, 613943				21439540		False	1	0;0;100	4.12	False		ENSG00000204020	ENSG00000204020	HGNC:23452													
MBTPS2	gene	MBTPS2	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome);?Olmsted syndrome, X-linked, 300918;IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma				22931912;24313295		False	1	0;0;0	4.12	False		ENSG00000012174	ENSG00000012174	HGNC:15455													
MT-TS1	gene	MT-TS1	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	MITOCHONDRIAL	Keratoderma, Palmoplantar, with deafness;palmoplantar keratoderma with deafness				9450881		False	1	0;100;0	4.12	False		ENSG00000210151	ENSG00000210151	HGNC:7497													
SASH1	gene	SASH1	Expert Review Red	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373				25315659		False	1	0;0;0	4.12	False		ENSG00000111961	ENSG00000111961	HGNC:19182