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
CMPK2	gene	CMPK2	Expert Review Amber;Literature	Brain Calcification		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related			Cerebral calcification;HP:0002514	36443312		False	2	0;100;0	1.99	True		ENSG00000134326	ENSG00000134326	HGNC:27015													
GLA	gene	GLA	Expert list;Expert Review Amber	Brain Calcification		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Fabry disease, MIM# 301500			Cerebral calcification;HP:0002514	32734340;24372060;30532363		False	2	0;100;0	1.99	True		ENSG00000102393	ENSG00000102393	HGNC:4296													
MOCS1	gene	MOCS1	Expert list;Expert Review Amber	Brain Calcification		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency A, MIM# 252150			Cerebral calcification;HP:0002514	27289259		False	2	0;50;50	1.99	True		ENSG00000124615	ENSG00000124615	HGNC:7190													
PANK2	gene	PANK2	Expert list;Expert Review Amber	Brain Calcification		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 1, MIM# 234200			Cerebral calcification;HP:0002514	23968566;29642163;28024710		False	2	0;50;50	1.99	True		ENSG00000125779	ENSG00000125779	HGNC:15894													
WDR45	gene	WDR45	Expert list;Expert Review Amber	Brain Calcification		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Neurodegeneration with brain iron accumulation 5, MIM# 300894			Cerebral calcification;HP:0002514	26859818;25301227		False	2	0;100;0	1.99	False		ENSG00000196998	ENSG00000196998	HGNC:28912													
