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
NDUFA3	gene	NDUFA3	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome				39661167		False	2	33;67;0	3.19	True		ENSG00000170906	ENSG00000170906	HGNC:7686													
NDUFA5	gene	NDUFA5	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000128609	ENSG00000128609	HGNC:7688													
NDUFA7	gene	NDUFA7	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000267855	ENSG00000267855	HGNC:7691													
NDUFAB1	gene	NDUFAB1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000004779	ENSG00000004779	HGNC:7694													
NDUFB1	gene	NDUFB1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000183648	ENSG00000183648	HGNC:7695													
NDUFB2	gene	NDUFB2	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000090266	ENSG00000090266	HGNC:7697													
NDUFB4	gene	NDUFB4	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	No OMIM phenotype				28454995		False	2	33;67;0	3.19	True		ENSG00000065518	ENSG00000065518	HGNC:7699													
NDUFB5	gene	NDUFB5	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000136521	ENSG00000136521	HGNC:7700													
NDUFB6	gene	NDUFB6	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000165264	ENSG00000165264	HGNC:7701													
NDUFB9	gene	NDUFB9	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex I deficiency, nuclear type 24, 618245				22200994		False	2	67;33;0	3.19	True		ENSG00000147684	ENSG00000147684	HGNC:7704													
NDUFC1	gene	NDUFC1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000109390	ENSG00000109390	HGNC:7705													
NDUFS5	gene	NDUFS5	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000168653	ENSG00000168653	HGNC:7712													
NDUFV3	gene	NDUFV3	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex I deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.19	True		ENSG00000160194	ENSG00000160194	HGNC:7719