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
ADRA2A	gene	ADRA2A	Expert list	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	No OMIM number;familial partial lipodystrophy				27376152		False	1	0;0;100	1.18	False		ENSG00000150594	ENSG00000150594	HGNC:281													
AGPS	gene	AGPS	Expert Review Red;Radboud University Medical Center, Nijmegen	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, congenital generalized, type 1, 608594						False	1	0;0;100	1.18	False		ENSG00000018510	ENSG00000018510	HGNC:327													
AKT2	gene	AKT2	Emory Genetics Laboratory;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, type II, OMIM:125853;Type 2 diabetes mellitus, MONDO:0005148				15166380;17327441;17576055		False	1	100;0;0	1.18	False		ENSG00000105221	ENSG00000105221	HGNC:392													
CAV1	gene	CAV1	Expert Review Red;Radboud University Medical Center, Nijmegen	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders		"Lipodystrophy, congenital generalized, type 3, 612526;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721"				18211975		False	1	0;0;100	1.18	False		ENSG00000105974	ENSG00000105974	HGNC:1527													
CIDEC	gene	CIDEC	Emory Genetics Laboratory;Expert Review Red;Literature	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Lipodystrophy, familial partial, type 5	615238"				20049731		False	1	100;0;0	1.18	False		ENSG00000187288	ENSG00000187288	HGNC:24229													
FGFR3	gene	FGFR3	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypochondroplasia, 146000;Crouzon syndrome with acanthosis nigricans, 612247						False	1	0;0;100	1.18	False		ENSG00000068078	ENSG00000068078	HGNC:3690													
NSMCE2	gene	NSMCE2	Expert Review Red;Literature	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Dwarfism with extreme insulin resistance and acanthosis nigricans				25105364		False	1	50;0;50	1.18	False		ENSG00000156831	ENSG00000156831	HGNC:26513													
POC1A	gene	POC1A	Expert Review Red;Literature	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	614813"				26336158		False	1	0;0;100	1.18	False		ENSG00000164087	ENSG00000164087	HGNC:24488													
PPP1R3A	gene	PPP1R3A	Expert Review Red;Radboud University Medical Center, Nijmegen	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Insulin resistance, severe, digenic	125853"						False	1	0;0;100	1.18	False		ENSG00000154415	ENSG00000154415	HGNC:9291													
PSMB8	gene	PSMB8	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Insulin resistance (including lipodystrophy)	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040;Autoinflammation, lipodystrophy, and dermatosis syndrome						False	1	0;0;100	1.18	False		ENSG00000204264	ENSG00000204264	HGNC:9545