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
AKR1B1	gene	AKR1B1	Literature	PHACE(S) syndrome	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes		PHACE syndrome				22544659		False	1	0;0;0	1.4	False		ENSG00000085662	ENSG00000085662	HGNC:381													
ANTXR1	gene	ANTXR1	Radboud University Medical Center, Nijmegen	PHACE(S) syndrome	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089				18931684		False	1	0;0;0	1.4	False		ENSG00000169604	ENSG00000169604	HGNC:21014													
DUSP5	gene	DUSP5	Other	PHACE(S) syndrome	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes		infantile hemangioma, somatic				18927432		False	1	0;0;0	1.4	False		ENSG00000138166	ENSG00000138166	HGNC:3071													
FLT4	gene	FLT4	Radboud University Medical Center, Nijmegen	PHACE(S) syndrome	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes		Hemangioma, capillary infantile, somatic, 602089				11807987		False	1	0;0;0	1.4	False		ENSG00000037280	ENSG00000037280	HGNC:3767													
KDR	gene	KDR	Radboud University Medical Center, Nijmegen	PHACE(S) syndrome	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hemangioma, capillary infantile, somatic, 602089; {Hemangioma, capillary infantile, susceptibility to}, 602089				11807987; 18931684		False	1	0;0;0	1.4	False		ENSG00000128052	ENSG00000128052	HGNC:6307													
SLC35B4	gene	SLC35B4	Literature	PHACE(S) syndrome	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes		PHACE syndrome				22544659		False	1	0;0;0	1.4	False		ENSG00000205060	ENSG00000205060	HGNC:20584