Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ANEMIA, DIAMOND-BLACKFAN	C1260899 MESH:D029503	ADA2	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
		DIPK1A	Unknown	—	Disgenet	—
		GATA1	Unknown	—	Disgenet	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		GH1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +6 more
		HEATR3	Unknown	—	Disgenet	—
		IQCG	Unknown	—	Disgenet	—
		RPL11	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL15	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL18	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL26	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL35	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL35A	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL5	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL8	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPS10	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS10-NUDT3	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19
		RPS15A	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS17	Unknown	17647292	CTD, Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS19	Unknown	—	CTD, Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS20	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS24	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS26	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS28	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS29	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS7	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		TP53	Unknown	—	Disgenet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		TSR2	Unknown	—	Disgenet	—
		ZNF699	Unknown	—	Disgenet	Generic Transcription Pathway
ANEMIA, DIAMOND-BLACKFAN, 3	C1857719 MESH:C536355	RPS24	Unknown	—	CTD, Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA	124 MONDO:0015253	GATA1	Causal	22706301 24952648	GWAS catalog, Orphanet	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		HEATR3	Causal	35213692	Orphanet	—
		RPL11	Causal	20301769	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL35A	Causal	20301769	Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL5	Causal	20301769	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPS10	Causal	20301769	ClinGen, GenCC, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS17	Causal	20301769	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS19	Causal	10590074 12586610 17726054 18641651 20301769 20395159 9988267	ClinGen, GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS20	Causal	32790018	ClinVar, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS24	Causal	20301769	ClinGen, GenCC, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS26	Causal	20301769	CTD, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS7	Causal	20301769	Disgenet, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		ADA2	Unknown	30503522	GWAS catalog, Orphanet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
		RPL15	Unknown	20301769 23812780	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL18	Unknown	28280134	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL26	Unknown	20301769 22431104	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL27	Unknown	25424902	Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL31	Unknown	25042156 25424902	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL35	Unknown	28280134	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL8	Unknown	25424902 34961992	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL9	Unknown	20116044 29114930 31799629	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPS15	Unknown	19061985	CTD	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS15A	Unknown	27909223	Disgenet, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS27	Unknown	25424902	Orphanet	Ribosome Coronavirus disease - COVID-19 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal +16 more
		RPS28	Unknown	24942156	GWAS catalog, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS29	Unknown	24829207	Disgenet, Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		TSR2	Unknown	24942156	GenCC, Orphanet	—
DIAMOND-BLACKFAN ANEMIA 1	C2676137 105650 MONDO:0007110	HEATR3	Causal	—	Disgenet	—
		RPL5	Causal	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPS19	Causal	10590074 23812780 33622161 35923690 9988267	ClinVar, Disgenet, GenCC, HPO, ClinGen	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		DIPK1A	Unknown	—	Disgenet	—
DIAMOND-BLACKFAN ANEMIA 10	613309 C2750080 MESH:C567649 MONDO:0013217	RPS26	Causal	31277601 25946618 24942156 24675553 20116044	CTD, ClinVar, Disgenet, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 11	614900 C3554042 MONDO:0013964 OMIM:614900	RPL26	Causal	22431104	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 12	615550 C3809888 MONDO:0014245 OMIM:615550	RPL15	Causal	23812780 25042156 29599205	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 12	615550 C3809888 MONDO:0014245 OMIM:615550	NKIRAS1	Unknown	—	Disgenet	RIP-mediated NFkB activation via ZBP1 TAK1 activates NFkB by phosphorylation and activation of IKKs complex TRAF6 mediated NF-kB activation
DIAMOND-BLACKFAN ANEMIA 13	615909 C4014641 MONDO:0014394 OMIM:615909	RPS29	Causal	24829207 26136524 29797310 31618753 33718801	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS	300946 C4225422 MONDO:0010493 OMIM:300946	TSR2	Causal	24942156	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS	C4225411 606164 MONDO:0011639 OMIM:606164	RPS26	Causal	20116044 24675553 24942156 25946618 31277601	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		RPS28	Causal	24942156	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		TSR2	Causal	—	Disgenet	—
DIAMOND-BLACKFAN ANEMIA 16	617408 C4479424 MONDO:0044309 OMIM:617408	RPL27	Causal	25424902	CTD, ClinVar, Disgenet, GenCC, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 17	617409 C4479428 MONDO:0044310 OMIM:617409	RPS27	Causal	25424902	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal +16 more
DIAMOND-BLACKFAN ANEMIA 18	618310 C5193020 MONDO:0032668	RPL18	Causal	28280134 32075953	ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 19	618312 C5193021 MONDO:0032669	RPL35	Causal	28280134	ClinVar, Disgenet, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 20	618313 C5193022 MONDO:0032670	RPS15A	Causal	27909223	ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 21	620072 C5774230 MONDO:0031071	HEATR3	Causal	35213692	ClinVar, Disgenet, HPO	—
DIAMOND-BLACKFAN ANEMIA 22	621262	RPL17	Unknown	—	ClinVar	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 3	610629 MONDO:0012529	RPS24	Causal	2210388 8647458 19773262 19689926 17186470 25946618	ClinVar, GenCC, HPO, ClinGen	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 4	612527 C2675860 MESH:C567281 MONDO:0012924	RPS17	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 5	612528 C2675859 MESH:C567280 MONDO:0012925	RPL35A	Causal	18535205 25946618	CTD, ClinVar, Disgenet, GenCC, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 5	612528 C2675859 MESH:C567280 MONDO:0012925	IQCG	Unknown	—	Disgenet	—
DIAMOND-BLACKFAN ANEMIA 6	612561 MONDO:0012937 OMIM:612561	RPL5	Causal	19061985 19191325 23718193 28376382 30933022 32309614 33197791 34464976 34587661	CTD, ClinGen, ClinVar, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 7	612562 C2675512 MESH:C567254 MONDO:0012938	RPL11	Causal	19061985 19191325 19773262	CTD, ClinVar, Disgenet, GenCC, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
DIAMOND-BLACKFAN ANEMIA 8	612563 C2675511 MESH:C567253 MONDO:0012939	RPS7	Causal	23718193 25424902	CTD, ClinVar, Disgenet, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 9	613308 C2750081 MESH:C567650 MONDO:0013216	RPS10	Causal	20116044 23718193	CTD, ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
DIAMOND-BLACKFAN ANEMIA 9	613308 C2750081 MESH:C567650 MONDO:0013216	RPS10-NUDT3	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19
DIAMOND-BLACKFAN ANEMIA-LIKE	617911 C4693556 MONDO:0060662	EPO	Causal	28283061	ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Hormone signaling +8 more
DIAMOND-BLACKFAN ANEMIA-LIKE	617911 C4693556 MONDO:0060662	IKZF1	Unknown	—	Disgenet	—

Diamond-blackfan anemia

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