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
BORCS5	gene	BORCS5	Expert Review Red;Literature	Osteopetrosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)			Increased bone mineral density;HP:0011001	40621786;7577667;40385417		False	1	0;0;100	1.0	True		ENSG00000165714	ENSG00000165714	HGNC:17950													
RASGRP2	gene	RASGRP2	Expert Review Red;Victorian Clinical Genetics Services	Osteopetrosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 18 - MIM#615888;Osteopetrosis (disease) MONDO:0017198			Increased bone mineral density;HP:0011001	18709451		False	1	0;50;50	1.0	True		ENSG00000068831	ENSG00000068831	HGNC:9879													
SGMS2	gene	SGMS2	Expert Review Red;Literature	Osteopetrosis		Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550			Increased bone mineral density;HP:0011001	30779713;32028018		False	1	50;0;50	1.0	True		ENSG00000164023	ENSG00000164023	HGNC:28395													
TYROBP	gene	TYROBP	Expert Review Red;Victorian Clinical Genetics Services	Osteopetrosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749			Increased bone mineral density;HP:0011001	20301376;25547154		False	1	0;0;100	1.0	True		ENSG00000011600	ENSG00000011600	HGNC:12449