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
ADAM17	gene	ADAM17	Expert Review Red;Literature	Hair disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Hypotrichosis 16, MIM#	621490"			Abnormal hair morphology;HP:0001595	38771644		False	1	0;0;100	0.89	True		ENSG00000151694	ENSG00000151694	HGNC:195													
HEPHL1	gene	HEPHL1	Expert Review Red;Literature	Hair disorders		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Abnormal hair, joint laxity, and developmental delay (MIM#261990)			Abnormal hair morphology;HP:0001595	PMID: 31125343;31293895		False	1	0;0;100	0.89	True		ENSG00000181333	ENSG00000181333	HGNC:30477													
KRT32	gene	KRT32	Expert Review Red;Literature	Hair disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	loose anagen syndrome MONDO:0010908			Abnormal hair morphology;HP:0001595	40814173		False	1	0;0;100	0.89	True		ENSG00000108759	ENSG00000108759	HGNC:6449													
RPL21	gene	RPL21	Expert Review Red;NHS GMS	Hair disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypotrichosis 12 MIM#615885			Abnormal hair morphology;HP:0001595	21412954		False	1	0;0;100	0.89	True		ENSG00000122026	ENSG00000122026	HGNC:10313													
TCHH	gene	TCHH	Expert Review Red;Literature	Hair disorders		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	?Uncombable hair syndrome 3, 617252			Abnormal hair morphology;HP:0001595	31332722		False	1	0;0;100	0.89	True		ENSG00000159450	ENSG00000159450	HGNC:11791													
ARHGAP36 downstream regulatory region	region		Literature;Literature	Hair disorders		Dermatological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Bazex-Dupre-Christol syndrome, MIM#301845			Abnormal hair morphology;HP:0001595	PMID: 40015599;35986704;38713094		False	1	100;0;0	0.89	False					X			131207776	131226336						70	cnv_gain	ARHGAP36 downstream regulatory region