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
ATP6AP2	gene	ATP6AP2	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, with epilepsy, 300423						False	2	0;0;0	0.1180	False		ENSG00000182220	ENSG00000182220	HGNC:18305													
B3GLCT	gene	B3GLCT	Emory Genetics Laboratory	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Peters-plus syndrome, 261540						False	2	0;0;0	0.1180	False		ENSG00000187676	ENSG00000187676	HGNC:20207													
CLN8	gene	CLN8	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003						False	2	0;0;0	0.1180	False		ENSG00000182372	ENSG00000182372	HGNC:2079													
FTO	gene	FTO	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, developmental delay, coarse facies, and early death, 612938;Growth Retardation, Developmental Delay, Coarse Facies, andEarly Death						False	2	0;0;0	0.1180	False		ENSG00000140718	ENSG00000140718	HGNC:24678													
IGBP1	gene	IGBP1	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472						False	2	0;0;0	0.1180	False		ENSG00000089289	ENSG00000089289	HGNC:5461													
KCNK9	gene	KCNK9	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Birk-Barel mental retardation dysmorphism syndrome, 612292;Birk-Barel Mental Retardation Dysmorphism Syndrome						False	2	0;0;0	0.1180	False		ENSG00000169427	ENSG00000169427	HGNC:6283													
LARGE1	gene	LARGE1	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840						False	2	0;0;0	0.1180	False		ENSG00000133424	ENSG00000133424	HGNC:6511													
MBTPS2	gene	MBTPS2	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	IFAP syndrome with or without BRESHECK syndrome, 308205						False	2	0;0;0	0.1180	False		ENSG00000012174	ENSG00000012174	HGNC:15455													
PIGO	gene	PIGO	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 2, 614749;Hyperphosphatasia with Mental Retardation Syndrome						False	2	0;0;0	0.1180	False		ENSG00000165282	ENSG00000165282	HGNC:23215													
PIGV	gene	PIGV	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 1, 239300;Hyperphosphatasia with Mental Retardation Syndrome						False	2	0;0;0	0.1180	False		ENSG00000060642	ENSG00000060642	HGNC:26031													
POMGNT1	gene	POMGNT1	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157						False	2	0;0;0	0.1180	False		ENSG00000085998	ENSG00000085998	HGNC:19139													
POMT1	gene	POMT1	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308						False	2	0;0;0	0.1180	False		ENSG00000130714	ENSG00000130714	HGNC:9202													
POMT2	gene	POMT2	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158						False	2	0;0;0	0.1180	False		ENSG00000009830	ENSG00000009830	HGNC:19743													
SCN1A	gene	SCN1A	Radboud University Medical Center, Nijmegen	Intellectual_disability	Neurodevelopmental disorders	Neurology and neurodevelopmental disorders		Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403						False	2	0;0;0	0.1180	False		ENSG00000144285	ENSG00000144285	HGNC:10585