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
FICD	gene	FICD	Expert review;Expert Review Amber	Neonatal diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Neonatal diabetes;Neonatal insulin-dependent diabetes mellitus, HP:0000857;severe neurodevelopmental delay, HP:0012758;skeletal abnormalities				36704923		False	2	0;0;0	5.23	False		ENSG00000198855	ENSG00000198855	HGNC:18416													
PAX4	gene	PAX4	Expert Review Amber;Literature	Neonatal diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, type 2, OMIM:125853;type 2 diabetes mellitus,MONDO:0005148				11723072;25951767;36595822;40614820;41475885		False	2	50;50;0	5.23	False	Other	ENSG00000106331	ENSG00000106331	HGNC:8618													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Neonatal diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes				33495992		False	2	0;100;0	5.23	False		ENSG00000143870	ENSG00000143870	HGNC:30168													
RNU4ATAC	gene	RNU4ATAC	Expert Review Amber;Literature	Neonatal diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	RNU4ATAC spectrum disorder, MONDO:0100558;neonatal diabetes;developmental delay;microcephaly;skeletal abnormalities;hypothyroidism;humoral immune defect;hepatic disorder;growth failure;failure to thrive;atopic dermatitis				41864208		False	2	100;0;0	5.23	False	Other	ENSG00000264229	ENSG00000264229	HGNC:34016													
RNU6ATAC	gene	RNU6ATAC	Expert Review Amber;Literature	Neonatal diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	neonatal diabetes mellitus, MONDO:0016391;hypothyroidism;humoral immunue defect;hepatic disorder;growth failure;failure to thrive;skeletal abnormalities;atopic dermatitis;vitiligo;alopecia				41864208		False	2	100;0;0	5.23	False	Other	ENSG00000221676	ENSG00000221676	HGNC:34017													
TARS2	gene	TARS2	Expert Review Amber;Literature	Neonatal diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 21, OMIM:615918;combined oxidative phosphorylation defect type 21, MONDO:0014398				24827421;34508595;37454282;39394138;39509107		False	2	50;50;0	5.23	False	Other	ENSG00000143374	ENSG00000143374	HGNC:30740