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
RPL18	gene	RPL18	Expert list;Expert Review Amber	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anemia 18, MIM#	618310"			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	28280134;32075953		False	2	0;100;0	1.8	True		ENSG00000063177	ENSG00000063177	HGNC:10310													
RPL31	gene	RPL31	Expert Review Amber;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond Blackfan anaemia			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	25042156;25424902		False	2	0;100;0	1.8	True		ENSG00000071082	ENSG00000071082	HGNC:10334													
RPL8	gene	RPL8	Expert Review Amber;Literature	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia MONDO:0015253			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	25424902;34961992		False	2	0;100;0	1.8	True		ENSG00000161016	ENSG00000161016	HGNC:10368													
RPL9	gene	RPL9	Expert list;Expert Review Amber	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond Blackfan anaemia			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	29114930;20116044;31799629		False	2	0;100;0	1.8	True		ENSG00000163682	ENSG00000163682	HGNC:10369													
RPS20	gene	RPS20	Expert Review Amber;Literature	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond Blackfan anaemia			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	32790018		False	2	0;100;0	1.8	True	Other	ENSG00000008988	ENSG00000008988	HGNC:10405													
RPS28	gene	RPS28	Expert Review Amber;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	24942156		False	2	0;100;0	1.8	True		ENSG00000233927	ENSG00000233927	HGNC:10418													
RPS29	gene	RPS29	Expert Review Amber;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 13, MIM# 615909			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	24829207		False	2	0;100;0	1.8	True		ENSG00000213741	ENSG00000213741	HGNC:10419													
