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
ECE1	gene	ECE1	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870			Gastrointestinal dysmotility;HP:0002579	9915973		False	1	0;0;100	1.24	True		ENSG00000117298	ENSG00000117298	HGNC:3146													
GDNF	gene	GDNF	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Hirschsprung disease, susceptibility to, 3} MIM#613711			Gastrointestinal dysmotility;HP:0002579	18276829;8896568;8657308;11973622		False	1	0;0;100	1.24	True		ENSG00000168621	ENSG00000168621	HGNC:4232													
MIR145	gene	MIR145	Expert Review Red;Literature	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	multisystemic smooth muscle dysfunction syndrome (MONDO:0013452)			Gastrointestinal dysmotility;HP:0002579	36649075		False	1	0;0;100	1.24	True		-	-	HGNC:31532													
NRG3	gene	NRG3	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hirschsprung disease			Gastrointestinal dysmotility;HP:0002579	23315268		False	1	0;0;100	1.24	True		ENSG00000185737	ENSG00000185737	HGNC:7999													
NRTN	gene	NRTN	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	Unknown	Hirschsprung disease			Gastrointestinal dysmotility;HP:0002579	21206993;10069332;9700200		False	1	0;0;100	1.24	True		ENSG00000171119	ENSG00000171119	HGNC:8007													
OPA1	gene	OPA1	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	gastrointestinal pseudo-obstruction			Gastrointestinal dysmotility;HP:0002579	30395865		False	1	50;0;50	1.24	True		ENSG00000198836	ENSG00000198836	HGNC:8140													
POLG2	gene	POLG2	Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131			Gastrointestinal dysmotility;HP:0002579	21555342;27775730		False	1	50;0;50	1.24	True		ENSG00000256525	ENSG00000256525	HGNC:9180													
SEMA3C	gene	SEMA3C	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	Unknown	Hirschsprung disease			Gastrointestinal dysmotility;HP:0002579	25839327		False	1	0;0;100	1.24	True		ENSG00000075223	ENSG00000075223	HGNC:10725													
SEMA3D	gene	SEMA3D	Expert list;Expert Review Red	Gastrointestinal neuromuscular disease		Gastroenterological disorders	Unknown	Hirschsprung disease			Gastrointestinal dysmotility;HP:0002579	28334784;25839327		False	1	0;0;100	1.24	True		ENSG00000153993	ENSG00000153993	HGNC:10726													
TMEM70	gene	TMEM70	NHS GMS	Gastrointestinal neuromuscular disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052			Gastrointestinal dysmotility;HP:0002579	21147908		False	1	0;100;0	1.24	False		ENSG00000175606	ENSG00000175606	HGNC:26050