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
LMOD1	gene	LMOD1	Expert Review Amber;Royal Melbourne Hospital	Gastrointestinal neuromuscular disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362			Gastrointestinal dysmotility;HP:0002579	28292896		False	2	0;100;0	1.24	True		ENSG00000163431	ENSG00000163431	HGNC:6647													
MYLK	gene	MYLK	Expert Review Amber;Royal Melbourne Hospital	Gastrointestinal neuromuscular disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210			Gastrointestinal dysmotility;HP:0002579	28602422		False	2	0;100;0	1.24	True		ENSG00000065534	ENSG00000065534	HGNC:7590													
NRG1	gene	NRG1	Expert list;Expert Review Amber	Gastrointestinal neuromuscular disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hirschsprung disease			Gastrointestinal dysmotility;HP:0002579	22574178;21706185;28190554		False	2	0;100;0	1.24	True		ENSG00000157168	ENSG00000157168	HGNC:7997													
PDCL3	gene	PDCL3	Expert Review Amber;Literature	Gastrointestinal neuromuscular disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	megacystis-microcolon			Gastrointestinal dysmotility;HP:0002579	PMID: 32621347		False	2	0;100;0	1.24	True		ENSG00000115539	ENSG00000115539	HGNC:28860													
SGO1	gene	SGO1	Expert Review Amber;Royal Melbourne Hospital	Gastrointestinal neuromuscular disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic atrial and intestinal dysrhythmia, MIM# 616201			Gastrointestinal dysmotility;HP:0002579	25282101		False	2	0;100;0	1.24	True		ENSG00000129810	ENSG00000129810	HGNC:25088