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 anaemia 18, MIM#	618310"			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	28280134;32075953;41851260;40510848		False	2	0;100;0	1.22	True		ENSG00000063177	ENSG00000063177	HGNC:10310													
RPL27	gene	RPL27	Expert Review Amber;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anaemia 16, MIM# 617408			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	25424902;38988374		False	2	0;100;0	1.22	True		ENSG00000131469	ENSG00000131469	HGNC:10328													
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	1.22	True		ENSG00000071082	ENSG00000071082	HGNC:10334													
RPL36	gene	RPL36	Curated sources;Expert Review Amber	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR);Diamond-Blackfan anemia MONDO:0015253			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	28297620;19061985;39923319		False	2	0;100;0	1.22	False		ENSG00000130255	ENSG00000130255	HGNC:13631													
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	1.22	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	1.22	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	1.22	True	Other	ENSG00000008988	ENSG00000008988	HGNC:10405													
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	1.22	True		ENSG00000213741	ENSG00000213741	HGNC:10419