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
CASP14	gene	CASP14	Expert list;Expert Review Amber	Ichthyosis		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 12 MIM#617320			Ichthyosis;HP:0008064	27494380;23014340;17515931		False	2	0;100;0	1.11	True		ENSG00000105141	ENSG00000105141	HGNC:1502													
DBR1	gene	DBR1	Expert Review Amber;Literature	Ichthyosis		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510			Ichthyosis;HP:0008064	37656279		False	2	0;100;0	1.11	True		ENSG00000138231	ENSG00000138231	HGNC:15594													
GTF2H5	gene	GTF2H5	Expert Review Amber;Literature	Ichthyosis		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 3, photosensitive MIM#616395			Ichthyosis;HP:0008064	30359777;24986372		False	2	50;50;0	1.11	True		ENSG00000272047	ENSG00000272047	HGNC:21157													
KDSR	gene	KDSR	Expert list;Expert Review Amber	Ichthyosis		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Harlequin ichthyosis			Ichthyosis;HP:0008064	28774589		False	2	0;100;0	1.11	True		ENSG00000119537	ENSG00000119537	HGNC:4021													
MSMO1	gene	MSMO1	Expert Review Amber;Literature	Ichthyosis		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834);MONDO:0014793			Ichthyosis;HP:0008064	24144731;21285510		False	2	0;100;0	1.11	True		ENSG00000052802	ENSG00000052802	HGNC:10545													
PRSS8	gene	PRSS8	Expert Review Amber;Literature	Ichthyosis		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	ichthyosis MONDO:0019269, PRSS8-related			Ichthyosis;HP:0008064	36715754		False	2	0;100;0	1.11	True		ENSG00000052344	ENSG00000052344	HGNC:9491													
SREBF2	gene	SREBF2	Expert Review Amber;Literature	Ichthyosis		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurocutaneous syndrome, MONDO:0042983, SREBF2-related			Ichthyosis;HP:0008064	38847193		False	2	0;100;0	1.11	True		ENSG00000198911	ENSG00000198911	HGNC:11290													
