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
GDNF	gene	GDNF	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	Unknown	{Hirschsprung disease, susceptibility to, 3} 613711				12239580;23605783;8896569;8968758;11953745		False	2	50;50;0	1.30	False		ENSG00000168621	ENSG00000168621	HGNC:4232													
L1CAM	gene	L1CAM	Expert Review Amber;Radboud University Medical Center, Nijmegen	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000				18854860;15368500		False	2	67;33;0	1.30	False		ENSG00000198910	ENSG00000198910	HGNC:6470													
PTEN	gene	PTEN	Expert Review;Expert Review Amber	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders		Bannayan-Riley-Ruvalcaba syndrome 153480				21258937;19884655		False	2	0;100;0	1.30	False		ENSG00000171862	ENSG00000171862	HGNC:9588