Diamond-blackfan Anemia malady

NIH Rare Diseases: Diamond Blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life. Anemia results from the failure of the bone marrow to produce red blood cells, the cells that carry oxygen throughout the body. Individuals with Diamond Blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. Some affected individuals also have short stature.  The cause of Diamond Blackfan anemia is often unknown. About 45% of people with Diamond Blackfan anemia inherit this condition from a parent. Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.    ³⁰

MalaCards: Diamond-blackfan Anemia, also known as erythrogenesis imperfecta, is related to pure red-cell aplasia and fanconi's anemia. An important gene associated with Diamond-blackfan Anemia is RPS19 (ribosomal protein S19), and among its related pathways are Hematopoietic cell lineage and Development EPO-induced MAPK pathway. The drugs nandrolone and oxymetholone and the compounds pixy321 and amifostine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and heart.

Genetics Home Reference: Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).¹⁷

OMIM: 610629

GeneReviews summary for diamond-b

Aliases & Descriptions:

diamond-blackfan anemia 6 15 30 17 8 33 32 erythrogenesis imperfecta 30 17 43 congenital hypoplastic anemia of blackfan and diamond 16 17 congenital pure red cell aplasia 17 32 congenital hypoplastic anemia 30 43 anemia diamond blackfan type 30 16 blackfan-diamond syndrome 6 17 aase syndrome 17 43 bds 30 17 dba 30 17 chronic constitutional pure red cell aplasia (disorder) 6 congenital hypoplastic anemia of blackfandiamond 15 chronic constitutional pure red cell anaemia 6 decreased erythroid precursor production 43 congenital erythroid hypoplastic anemia 17 anemia congenital erythroid hypoplastic 30 aregenerative anemia chronic congenital 30 chronic congenital agenerative anemia 17 red cell aplasia, pure hereditary 30 pure hereditary red cell aplasia 17

congenital pure red cell anemia 17 pure red cell anemia, chronic 43 hypoplastic congenital anemia 17 anemia hypoplastic congenital 32 inherited erythroblastopenia 17 blackfan - diamond syndrome 6 blackfan diamond syndrome 30 anemia, diamond-blackfan 6 neonatal hemochromatosis 43 blackfan-diamond disease 17 blackfan diamond anemia 17 aase-smith syndrome ii 17 pure red-cell aplasia 43 aase smith syndrome 2 43 hypoplastic anemia 43 congenital anemia 43 anemia 43 bda 17

Disease types for diamond-blackfan anemia family:

diamond-blackfan anemia 2	diamond-blackfan anemia 3

Diseases related to diamond-blackfan anemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 637)

id	Related Disease	Score	Top Affiliating Genes
1	pure red-cell aplasia	38.9	KITLG, IL3, RPS3A, RPS21, RPL35, RPL27
2	fanconi's anemia	35.4	RPL24, RPS27A, RPL26, RPS26, RPS3A, G6PD
3	sickle cell anemia	33.8	KITLG, G6PD, KCNN4, MTHFR, IL3, EPO
4	myelodysplastic syndrome	32.2	THPO, EPOR, EPO, RPS14, GYPA, JAK2
5	aplastic anemia	31.9	EPO, THPO, RPS19, IL3, KITLG
6	dyserythropoietic anemia with thrombocytopenia	31.9	IL3, THPO, EPO, KITLG
7	congenital hemolytic anemia	31.5	IL3, G6PD, EPO
8	macrocytic anemia	31.3	RPS7, RPS24, RPS17, RPL35A, RPS14, RPS26
9	cleft palate	31.0	RPL5, MTHFR, RPS26, RPL35A, RPS7, RPS17
10	pyruvate kinase deficiency	30.9	G6PD, EPO, MTHFR
11	neutropenia	29.4	KITLG, EPOR, IL3, THPO, EPO, JAK2
12	thrombocytosis	28.9	KITLG, JAK2, IL3, THPO, EPO, EPOR
13	myelofibrosis	28.6	EPO, KITLG, JAK2, IL3, THPO
14	severe congenital neutropenia	28.5	IL3, KITLG, THPO, JAK2
15	multiple myeloma	28.4	EPOR, EPO, RPS27A, KITLG, RPS19, JAK2
16	anemia	28.3	RPS19P1, MTHFR, KCNN4, RAN, KITLG, PIM1
17	hematopoiesis	27.7	PIM1, KITLG, JAK2, IL3, IL9, RPS19
18	sickle cell disease	27.7	G6PD, MTHFR, KCNN4, EPOR, EPO, IL3
19	myeloma	27.6	KITLG, RAN, MTHFR, JAK2, THPO, RPS27A
20	hodgkin's lymphoma	27.3	IL9, IL3, RPS3A, MTHFR, RAN, JAK2
21	short stature	26.8	PRL, RPS19, RPS24, RPS7, RPL5, RPS10
22	erythrocytosis	26.6	IL3, KITLG, EPOR, EPO, JAK2
23	essential thrombocythemia	26.6	THPO, JAK2
24	transient erythroblastopenia of childhood	26.2	EPO, RPS19
25	congenital amegakaryocytic thrombocytopenia	25.8	IL3, THPO
26	myeloid leukemia	25.8	IL9, G6PD, THPO, TAL1, EPOR, EPO
27	t-cell leukemia	25.7	IL3, RAN, RPL6, THPO, TAL1, EPO
28	leukemia	25.3	G6PD, RPS27A, RPS17, RPL6, RPS21, RPS6
29	chronic myeloid leukemia	25.2	IL3, JAK2, G6PD, TAL1, EPO, EPOR
30	polycythemia vera	24.6	KITLG, EPOR, THPO, G6PD, EPO, JAK2
31	polycythemia	24.2	KITLG, GYPA, IL3, G6PD, THPO, EPO
32	thrombosis	24.1	G6PD, EPO, RPL36, IL3, JAK2, MTHFR
33	cerebritis	23.6	RPS27A, EPOR, EPO, PRL, IL9, ID2
34	non-hodgkin lymphoma	23.4	KITLG, RAN, EPO, RPS3A, PRL, TAL1
35	acute lymphoblastic leukemia	23.0	EPO, KITLG, EPOR, RAN, TAL1, MTHFR
36	acute leukemia	22.5	EPO, TAL1, MTHFR, THPO, KITLG, RAN
37	lymphoblastic leukemia	22.5	EPO, JAK2, RPS27A, G6PD, THPO, MTHFR
38	malaria	20.6	EPOR, EPO, RIOK2, G6PD, RPL10A, RPS27A
39	prostatitis	19.7	RPS6, RPS16, G6PD, ID2, MTHFR, JAK2
40	thyroiditis	18.8	RPS27A, G6PD, THPO, TCF12, RAN, RPL15
41	pierre robin sequence	13.6	RPL5, RPS7, RPS24, RPS17, RPL35A, RPS26
42	acute megakaryoblastic leukemia	13.5	IL3, THPO, EPOR
43	cyclic thrombocytopenia	13.4	THPO, IL3
44	acquired polycythemia	13.1	JAK2, EPO
45	primary polycythemia	13.0	EPO, EPOR, JAK2
46	megakaryoblastic leukemia	12.7	THPO, IL9, IL3, JAK2, KITLG, EPOR
47	hematologic cancer	12.7	THPO, IL3, JAK2, RAN, KITLG
48	hepatoblastoma	12.6	EPOR, IL3, G6PD, THPO, EPO, KITLG
49	portal vein thrombosis	12.2	MTHFR, THPO, JAK2, EPO, RPL36
50	myeloproliferative disorder	12.2	RAN, IL3, EPOR, JAK2, KITLG, THPO

Clinical features from OMIM: 610629

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cyclophosphamide, darbepoetin alfa,recombinant, epoetin alfa,recombinant, nandrolone, nandrolone decanoate, nandrolone phenpropionate, oxymetholone, sodium ascorbate

Cell-based therapeutics:

MalaCards organs/tissues related to diamond-blackfan anemia:

²²

Articles related to diamond-blackfan anemia:

(show top 50)    (show all 79)

id	Title	Authors	Year	Affiliating Genes
1	5'UTR variants of ribosomal protein S19 transcript de termine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability. (21412415)	Badhai J.... Dahl N.	2011	RPS19
2	Can mutations in the ribosomal protein S26 (RPS26) ge ne lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry. (21414820)	Cmejla R.... Pospisilova D.	2011	RPS26
3	Ribosomal protein S19 binds to its own mRNA with redu ced affinity in Diamond-Blackfan anemia. (20395159)	Schuster J.... Dahl N.	2010	RPS19
4	Diamond Blackfan Anemia at the Crossroad between Ribo some Biogenesis and Heme Metabolism. (20454576)	Chiabrando D.... Tolosano E.	2010	FLVCR1
5	Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (20378560)	Konno Y.... Ito E.	2010	RPL5, RPL11, RPS17
6	Genetic variants in the noncoding region of RPS19 gen e in Diamond-Blackfan anemia: potential implications for phenotypic heterogenei ty. (20054847)	CrActien A.... Da Costa L.	2010	RPS19
7	Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. (18230666)	Choesmel V.... Gleizes P.E.	2008	RPS19, RPS24
8	Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. (18535205)	Farrar J.E.... Arceci R.J.	2008	RPL35A
9	Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. (18815190)	Rey M.A.... Tailor C.S.	2008	RPS19, FLVCR1
10	Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. (18715690)	Flygare J.... Karlsson S.	2008	RPS19
11	Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia. (18768533)	Cretien A.... Da Costa L.	2008	RPS19
12	Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. (18653748)	Uechi T.... Kenmochi N.	2008	RPS19
13	Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (16990592)	Flygare J.... Ellis S.R.	2007	RPS19
14	RPS19 and JAK2 genes are not silenced by DNA methylation in diamond blackfan anemia. (17356406)	Jelinek J.... Pospisilova D.	2007	JAK2, RPS19
15	The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. (17178250)	Morimoto K.... Sakamoto K.	2007	RPS19
16	Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (17517689)	Angelini M.... Loreni F.	2007	RPS19
17	Impaired ribosome biogenesis in Diamond-Blackfan anemia. (17053056)	Choesmel V.... Gleizes P.E.	2007	RPS19
18	Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (17647292)	Cmejla R.... Pospisilova D.	2007	RPS17
19	Translational efficiency in patients with Diamond-Blackfan anemia. (17082006)	Cmejlova J.... Cmejla R.	2006	RPS19
20	Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. (16741228)	Gazda H.T.... Beggs A.H.	2006	RAN, RPS19
21	Diamond Blackfan anemia: A paradigm for a ribosome-based disease. (16239073)	Ellis S.R.... Massey A.T.	2006	RPS19
22	Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. (16531079)	Cmejlova J.... Cmejla R.	2006	RPS19
23	Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. (16159874)	Leger-Silvestre I.... Ellis S.R.	2005	RPS19
24	An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. (15755903)	Ebert B.L.... Sieff C.A.	2005	KITLG, IL3, RPS19
25	Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. (15626736)	Flygare J.... Karlsson S.	2005	RPS19
26	Successful treatment of Diamond-Blackfan anemia with metoclopramide. (15795909)	Akiyama M.... Eto Y.	2005	PRL
27	Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. (16266891)	Chiocchetti A.... Dianzani I.	2005	PIM1, RPS19
28	Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. (15523650)	Chatr-Aryamontri A.... Loreni F.	2004	RPS19
29	Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. (15075082)	Campagnoli M.F.... Dianzan I.	2004	RPS19
30	Postmortem diagnosis of Diamond-Blackfan anemia. (15591911)	Beauchamp-Nicoud A.... Tchernia G.	2004	RPS19
31	Elevated thrombopoietin levels and alterations in the sequence of its receptor, c-Mpl, in patients with Diamond-Blackfan anemia. (15531462)	Pospisilova D.... Cmejla R.	2004	THPO
32	Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. (12586610)	Da Costa L.... Mohandas N.	2003	RPS19
33	Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer. (12718904)	Hamaguchi I.... Karlsson S.	2003	RPS19
34	A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke. (14696910)	Butrum M.W.... Golomb M.R.	2003	MTHFR
35	Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. (12351378)	Hamaguchi I.... Karlsson S.	2002	RPS19
36	Diamond-Blackfan anemia. (11176237)	Da Costa L.... Tchernia G.	2001	RPS19
37	Ribosomal proteins S3a, S13, S16, and S24 are not mutated in patients with Diamond-Blackfan anemia. (11202430)	Cmejla R.... Pospisilova D.	2001	RPS3A
38	Diamond-Blackfan anemia. (10698294)	Willig T.N.... Sieff C.A.	2000	IL3
39	Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. (11112378)	Ramenghi U.... Dianzani I.	2000	RPS19
40	Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. (10590074)	Willig T.-N.D.... Tchernia G.	1999	RPS19
41	Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia. (9693050)	Ghanshani S.... Chandy K.G.	1998	KCNN4
42	Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q. (9357971)	Dianzani I.... Ramenghi U.	1997	IL9
43	Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient. (9292545)	Zhang M.Y.... Miller B.A.	1997	TAL1, ID2, TCF12
44	Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia. (8167334)	Olivieri N.F.... Freedman M.H.	1994	IL3
45	Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. (8298126)	Perdahl E.B.... Lipton J.M.	1994	EPO
46	Sustained response after recombinant interleukin-3 in diamond blackfan anemia. (8286756)	Bastion Y.... BAckassy A.	1994	IL3
47	Successful treatment of Diamond-Blackfan anemia with interleukin 3. (7691318)	Gillio A.P.... O'Reilly R.J.	1993	IL3
48	Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3. (8338944)	Gillio A.P.... O'Reilly R.J.	1993	IL3
49	Diamond-Blackfan Anemia (20301769)	Clinton C.... Gazda H.T.	1993	RPL5, RPL11, RPS17
50	The SCF and c-kit genes in Diamond-Blackfan anemia. (1373335)	Drachtman R.A.... Alter B.P.	1992	KITLG

Genes related to diamond-blackfan anemia according to GeneCards:

(show top 50)    (show all 69)

id	Symbol	Description	Score	GeneCards Section Context
1	RPS19	ribosomal protein S19	11.1	Orthologs, Publications, Summaries
2	DBA2	Diamond-Blackfan anemia 2	11.1	Publications, Aliases & Descriptions
3	RPS24	ribosomal protein S24	11.1	Summaries, Publications
4	RPS17	ribosomal protein S17	11.1	Publications
5	RPL35A	ribosomal protein L35a	11.1	Publications
6	RPS26	ribosomal protein S26	11.1	Publications
7	RPS10	ribosomal protein S10	11.1	Publications
8	RPL5	ribosomal protein L5	11.1	Publications
9	RPL11	ribosomal protein L11	11.1	Publications
10	RPS7	ribosomal protein S7	11.1	Publications
11	THPO	thrombopoietin	11.1	Publications
12	KITLG	KIT ligand	11.1	Publications
13	IL3	interleukin 3 (colony-stimulating factor, multiple)	11.1	Publications
14	EPO	erythropoietin	11.1	Publications
15	RPS19P1	ribosomal protein S19 pseudogene 1	11.0	Publications
16	RPS19P2	ribosomal protein S19 pseudogene 2	11.0	Publications
17	RPL7P32	ribosomal protein L7 pseudogene 32	11.0	Disorders
18	RPS26P6	ribosomal protein S26 pseudogene 6	11.0	Disorders
19	RPS15	ribosomal protein S15	11.0	Publications
20	RPL39	ribosomal protein L39	11.0
21	RPL36AL	ribosomal protein L36a-like	11.0
22	FLVCR1	feline leukemia virus subgroup C cellular receptor 1	11.0	Publications
23	RSL24D1	ribosomal L24 domain containing 1	11.0	Publications
24	RPS16	ribosomal protein S16	11.0	Publications
25	RPS29	ribosomal protein S29	11.0
26	RPS28	ribosomal protein S28	11.0
27	RPL37	ribosomal protein L37	11.0
28	RPL26L1	ribosomal protein L26-like 1	11.0
29	RPS21	ribosomal protein S21	11.0
30	ID2	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	11.0	Publications
31	RPS2	ribosomal protein S2	11.0	Publications
32	RPLP2	ribosomal protein, large, P2	11.0
33	RPL9	ribosomal protein L9	11.0
34	KCNN4	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	11.0	Publications
35	RPL15	ribosomal protein L15	11.0
36	RPS23	ribosomal protein S23	11.0
37	RPL27	ribosomal protein L27	11.0
38	RPL36	ribosomal protein L36	11.0	Publications
39	RPL38	ribosomal protein L38	11.0
40	RPL10A	ribosomal protein L10a	11.0
41	RPL14	ribosomal protein L14	11.0
42	RIOK2	RIO kinase 2 (yeast)	11.0
43	TAL1	T-cell acute lymphocytic leukemia 1	11.0	Publications
44	RPS25	ribosomal protein S25	11.0
45	RPS3A	ribosomal protein S3A	11.0	Publications
46	CSDE1	cold shock domain containing E1, RNA-binding	11.0
47	RPL21	ribosomal protein L21	11.0
48	IL9	interleukin 9	11.0	Publications
49	RPL26	ribosomal protein L26	11.0
50	RPL35	ribosomal protein L35	11.0

Pathways related to diamond-blackfan anemia according to GeneDecks:

(show all 11)

id	Pathway	Score	Top Affiliating Genes
1	Hematopoietic cell lineage20	9.9	EPOR, EPO, THPO, IL3, GYPA, KITLG
2	Development EPO-induced MAPK pathway10	9.5	EPOR, EPO, JAK2, KITLG
3	Development_EPO-induced Jak-STAT pathway41	9.3	EPOR, EPO, JAK2, PIM1
4	Development EPO-induced Jak-STAT pathway10	9.2	EPOR, EPO, JAK2, PIM1
5	Development_EPO-induced MAPK pathway41	9.2	EPO, JAK2, KITLG, EPOR
6	Metabolism of mRNA38	8.8	RPS2, RPS23, RPS14, RPS17, RPS15A, RPS28
7	Jak-STAT signaling pathway20	8.4	EPOR, EPO, PRL, IL9, IL3, JAK2
8	JAK-STAT Pathway36	8.2	EPOR, EPO, PRL, THPO, IL9, IL3
9	Metabolism of RNA38	7.5	RPL35, RPL6, RPL27, RPL9, RPL26, RPL14
10	CFTR translational fidelity (class I mutations)41	5.2	RPS29, RPS15, RPL11, RPL37, RPS27A, RPL10A
11	Ribosome20	4.9	RSL24D1, RPS17, RPS15A, RPS28, RPL38, RPS25

Compounds related to diamond-blackfan anemia according to GeneDecks:

(show all 29)

id	Compound	Score	Top Affiliating Genes
1	pixy32132	10.6	KITLG, IL3, THPO, EPO
2	amifostine32 9 9	12.6	EPO, THPO, IL3, KITLG
3	filgrastim32 9 9	12.6	EPO, THPO, IL3, KITLG
4	mafosfamide32	10.6	THPO, IL3, KITLG
5	gm-csf32	10.5	EPO, THPO, IL3, KITLG
6	rrna32	10.4	RPL11, RPS15, RPS19, RPL5
7	pkh 232	10.4	IL3, KITLG
8	lenalidomide32 9 9	12.3	IL3, EPO, EPOR
9	erex32	10.2	EPOR, EPO
10	methylcellulose32	10.2	EPOR, EPO, THPO, IL9, IL3, KITLG
11	nesp32	10.2	EPO, EPOR
12	carboplatin32 34 9 9	13.0	KITLG, MTHFR, IL3, THPO, EPO
13	anagrelide32 9 9	12.0	EPO, THPO, JAK2
14	pp 10032	9.9	EPOR, EPO, JAK2
15	hydroxyurea32 9 9	11.8	EPO, THPO, IL3, JAK2, KITLG
16	Alpha-Hydroxy-Beta-Phenyl-Propionic Acid9 9	10.8	RSL24D1, RPL37, RPL11, RPL15, RPL8, RPL23A
17	anisomycin32 42 9 9	12.8	RPL37, RPL11, RPL15, RPL8, RPL23A, RPL26L1
18	gp 13032	9.5	EPOR, EPO, THPO, IL3, JAK2, KITLG
19	5-aza-2deoxycytidine32	9.4	EPO, THPO, RPS27A, IL3, JAK2, KITLG
20	puromycin32 9 9	11.4	RPS27A, RPL37, RPL11, RPL15, RPL8, RPL23A
21	imatinib32 34 9 9	12.2	EPO, THPO, RPS27A, RPS6, IL3, JAK2
22	butyrate32	9.2	EPO, THPO, RPS27A, ID2, IL3, GYPA
23	agar32	9.0	EPOR, THPO, G6PD, IL9, IL3, JAK2
24	ly29400232	8.8	EPOR, EPO, THPO, RPS6, IL3, JAK2
25	thymidine32 18	9.6	EPOR, EPO, THPO, RPS6, IL9, IL3
26	rapamycin32 42	9.5	EPO, THPO, G6PD, RPS27A, RPS6, IL3
27	aspirin32 34 18	10.2	THPO, G6PD, RPS27A, JAK2, MTHFR, KITLG
28	cisplatin32 34 9 9	11.0	EPOR, EPO, G6PD, RPS27A, IL3, JAK2
29	alanine32	7.7	EPOR, THPO, RPS27A, RPL14, IL3, GYPA

Cellular components related to diamond-blackfan anemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ribosome	GO:005840	9.6	RPL36AL, RPL15, RPS10, RPS7, RPS25, RPS17
2	ribonucleoprotein complex	GO:030529	9.3	RPL5, RPS7, RPL7, RPL27, RPS3A, RPS6
3	small ribosomal subunit	GO:015935	9.2	RPS6, RPS21, RPS26, RPS28, RPS25, RPS29
4	nucleolus	GO:005730	8.7	RPS25, RPS7, RPL5, RPS10, RPS19, RPL36
5	cytosolic small ribosomal subunit	GO:022627	8.3	RPS6, RPS3A, RPS21, RPS26, RPS2, RPS23
6	cytosolic large ribosomal subunit	GO:022625	7.5	RPL27, RPL15, RPL24, RPL36, RPL11, RPL37
7	cytosol	GO:005829	2.9	RAN, RPL9, RPL26, RPS14, RPL14, RPL35A

Biological processes related to diamond-blackfan anemia according to GeneDecks:

(show all 21)

id	Name	GO ID	Score	Top Affiliating Genes
1	embryonic hemopoiesis	GO:035162	10.2	KITLG, IL3, TAL1
2	ribosomal small subunit biogenesis	GO:042274	10.0	RPS6, RPS17, RPS28, RPS24, RPS7, RPS16
3	ribosomal large subunit biogenesis	GO:042273	9.9	RPL11, RPL5, RPL7, RPL35A, RPL14, RPL26
4	ribosomal small subunit assembly	GO:000028	9.8	RPS6, RPS14, RPS17, RPS25
5	erythrocyte maturation	GO:043249	9.7	G6PD, TAL1, EPO
6	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	9.4	EPO, IL3, JAK2
7	erythrocyte differentiation	GO:030218	9.4	TAL1, RPS19, RPS14, FLVCR1, JAK2
8	rRNA processing	GO:006364	9.4	RPS24, RPL7, RPS7, RPL5, RPS16, RPS19
9	SRP-dependent cotranslational protein targeting to membrane	GO:006614	5.3	RPL38, RPS15, RPL11, RPL37, RPS27A, RPL10A
10	RNA metabolic process	GO:016070	5.3	RPS6, RPS3A, RPS21, RPS26, RPL35, RPL6
11	mRNA metabolic process	GO:016071	5.2	RPS6, RPS3A, RPS21, RPS26, RPL35, RPL6
12	translational elongation	GO:006414	5.2	RPS16, RPS19, RPL8, RPL15, RPL24, RPL36
13	translational termination	GO:006415	5.2	RPS23, RPL27, RPL9, RPL26, RPS14, RPL14
14	viral transcription	GO:019083	5.2	RPL36, RPS15, RPL11, RPL37, RPS27A, RPL10A
15	cellular protein metabolic process	GO:044267	5.2	RPL14, RPL35A, RPL26L1, RPS17, RPS15A, RPS28
16	translational initiation	GO:006413	5.1	RPS3A, RPS25, RPS29, RPS24, RPLP2, RPL21
17	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	GO:000184	5.1	RPS6, RPS3A, RPS21, RPS26, RPL35, RPL6
18	translation	GO:006412	5.0	RPS6, RPL38, RPS25, RPS29, RPS24, RPLP2
19	gene expression	GO:010467	4.9	RPS7, RPL5, RPS10, RPS16, RPS19, RPL8
20	viral reproduction	GO:016032	4.9	RPS26, RPL35, RPL6, RPS2, RPS23, RPL27
21	viral infectious cycle	GO:019058	4.9	RAN, RPS6, RPS3A, RPS21, RPS26, RPL35

Molecular functions related to diamond-blackfan anemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	rRNA binding	GO:019843	9.6	RPL9, RPL23A, RPL8, RPL11, RPL37
2	RNA binding	GO:003723	6.8	CSDE1, RPS15A, RPL14, RPS14, RPL26, RPL9
3	structural constituent of ribosome	GO:003735	4.7	RPL10A, RPS27A, RPL37, RPL11, RPS15, RPL36AL