Anemia

Summary

Anemia (MONDO:0002280) is a disease (an umbrella term covering 19 Mondo subtypes) with 16 cohort genes (36 GWAS associations across 28 studies) and 1,177 clinical trials. Top therapeutic interventions include epoetin alfa, darbepoetin alfa, and epoetin beta.

At a glance

• Umbrella term: 19 Mondo subtypes
• Cohort genes: 16
• GWAS associations: 36
• ClinVar variants: 18
• Clinical trials: 1,177

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	anemia
Mondo ID	MONDO:0002280
MeSH	D000740
DOID	DOID:2355
NCIT	C2869
SNOMED CT	271737000
UMLS	C0002871
MedGen	1526
Is cancer (heuristic)	no

Also known as: anaemia (disease) · anemia · anemia (disease)

Data availability: 18 ClinVar variants · 36 GWAS associations (28 studies) · 1 HPO phenotype · 3 cell lines.

Disease family

An umbrella term covering 19 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia

Related subtypes (26): autoimmune disorder of blood, blood coagulation disease, hemorrhagic disease, blood platelet disease, splenic disorder, hematopoietic and lymphoid system neoplasm, blood group incompatibility, bone marrow disorder, thymus gland disorder, leukocyte disorder, monoclonal gammopathy, septicemic plague, hyperamylasemia, alpha thalassemia-intellectual disability syndrome type 1, Bloom syndrome, congenital hematological disorder, alpha-thalassemia-myelodysplastic syndrome, deafness-lymphedema-leukemia syndrome, L-ferritin deficiency, dyskeratosis congenita, autosomal dominant 6, polyclonal hyperviscosity syndrome, parasitemia, erythrocyte disorder, premalignant hematological system disease, GATA1-Related X-Linked Cytopenia, paraneoplastic hematological syndrome

Subtypes (19): congenital anemia, neonatal anemia, microcytic anemia, hypochromic anemia, pancytopenia, deficiency anemia, pure red-cell aplasia, macrocytic anemia, normocytic anemia, sideroblastic anemia, aplastic anemia, hemoglobin C disease, hemoglobin E disease, beta-thalassemia and related diseases, hemoglobinopathy Toms River, hereditary methemoglobinemia, hemoglobin D disease, anemia due to enzyme disorder, anemia due to chronic disorder

Genetics & variants

GWAS landscape

36 GWAS associations across 28 studies. Top hits map to 13 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs372755452	1e-55	LUC7L	?
chr6:32659703	1e-36		A	0.11
rs9622363	2e-30	APOL1	A	0.24
rs199598395	3e-29	RNF43, TSPOAP1-AS1	T
rs77924615	6e-19	PDILT	G	0.17
chr15:45093298	3e-18		T	0.12
chr1:169549811	1e-17		T	0.25
rs375498857	2e-16	PGAP6	?
rs7903146	5e-16	TCF7L2	C	0.11
chr22:37066896	1e-13		G	0.06
rs73728279	3e-13	PRKAG2	G	0.11
rs334	4e-13	HBB	T	0.34
rs7188250	5e-13	FTO	T	0.11
rs1558902	2e-12	FTO	T	0.1
rs189664045	6e-10	RPL6P5 - METAP2P1	?
chr6:1068777	8e-09		T	2.57
rs554358	2e-08	NKAIN2	?
chr18:12751216	2e-08		G	2.3
chr1:59480342	2e-08		G	2.58
chr11:61144450	2e-08		T	0.05
chr12:55012937	2e-08		A	2.43
chr8:40118275	3e-08		C	1.72
chr17:44855958	3e-08		GA	0.06
rs201339366	4e-08	ANO2	?
chr4:137225584	4e-08		G	1.69
chr4:163613206	4e-08		G	1.4
chr4:181956375	4e-08		C	1.93
chr10:21366618	4e-08		T	2.06
chr12:109442797	4e-08		C	0.05
chr16:88640357	4e-08		G	2.44

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473113	UK Biobank Whole-Genome Sequencing Consortium	2025	32,917	425,523	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667911	UK Biobank Whole-Genome Sequencing Consortium	2025	32,917	425,523	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90297583	Auwerx C	2024	17,388	300,091	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297637	Auwerx C	2024	17,388	300,091	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297688	Auwerx C	2024	17,388	300,091	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297740	Auwerx C	2024	17,388	300,091	Rare copy-number variants as modulators of common disease susceptibility.
GCST90079711	Backman JD	2021	14,923	372,152	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083697	Backman JD	2021	14,923	372,152	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651140	Liu TY	2025	12,821	215,243	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90475792	Verma A	2024	8,844	436,730	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	3
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	29

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	2
rare (<0.01)	0
unknown	23

Functional consequences

Consequence	Count
unknown	18
intron_variant	10
missense_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs372755452	16	199622	AG>A		intron_variant	LUC7L	1e-55	Tier 4: intronic/intergenic
chr6:32659703							1e-36	Tier 4: intronic/intergenic
rs9622363	22	36260509	A>G	0.47	intron_variant	APOL1	2e-30	Tier 4: intronic/intergenic
rs199598395	17	58358769	C>A,G,T	0.01	missense_variant	RNF43, TSPOAP1-AS1	3e-29	Tier 1: coding
rs77924615	16	20381010	G>A	0.174	intron_variant	PDILT	6e-19	Tier 4: intronic/intergenic
chr15:45093298							3e-18	Tier 4: intronic/intergenic
chr1:169549811							1e-17	Tier 4: intronic/intergenic
rs375498857	16	377772	C>A		missense_variant	PGAP6	2e-16	Tier 1: coding
rs7903146	10	112998590	C>G,T	0.292	intron_variant	TCF7L2	5e-16	Tier 4: intronic/intergenic
chr22:37066896							1e-13	Tier 4: intronic/intergenic
rs73728279	7	151714408	G>A,T	0.236	intron_variant	PRKAG2	3e-13	Tier 4: intronic/intergenic
rs334	11	5227002	T>A,C,G	0.038	missense_variant	HBB	4e-13	Tier 1: coding
rs7188250	16	53800695	T>C	0.411	intron_variant	FTO	5e-13	Tier 4: intronic/intergenic
rs1558902	16	53769662	T>A	0.331	intron_variant	FTO	2e-12	Tier 4: intronic/intergenic
rs189664045	2	145520951	G>A,C		intergenic_variant	RPL6P5 - METAP2P1	6e-10	Tier 4: intronic/intergenic
chr6:1068777							8e-09	Tier 4: intronic/intergenic
rs554358	6	124539810	T>A,C	0.05	intron_variant	NKAIN2	2e-08	Tier 4: intronic/intergenic
chr18:12751216							2e-08	Tier 4: intronic/intergenic
chr1:59480342							2e-08	Tier 4: intronic/intergenic
chr11:61144450							2e-08	Tier 4: intronic/intergenic
chr12:55012937							2e-08	Tier 4: intronic/intergenic
chr8:40118275							3e-08	Tier 4: intronic/intergenic
chr17:44855958							3e-08	Tier 4: intronic/intergenic
rs201339366	12	5714068	C>T		intron_variant	ANO2	4e-08	Tier 4: intronic/intergenic
chr4:137225584							4e-08	Tier 4: intronic/intergenic
chr4:163613206							4e-08	Tier 4: intronic/intergenic
chr4:181956375							4e-08	Tier 4: intronic/intergenic
chr10:21366618							4e-08	Tier 4: intronic/intergenic
chr12:109442797							4e-08	Tier 4: intronic/intergenic
chr16:88640357							4e-08	Tier 4: intronic/intergenic

ClinVar germline variants

18 retrieved; paginated sample, class counts are floors:

7 likely pathogenic, 5 uncertain significance, 4 pathogenic, 1 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
15655	NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)	HBA1	Pathogenic	criteria provided, single submitter
15061	NC_000011.10:g.5226570_5233984del	HBB	Pathogenic	criteria provided, single submitter
15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
644617	NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	KDM6A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1810246	NM_001355436.2(SPTB):c.1628G>A (p.Trp543Ter)	SPTB	Pathogenic	criteria provided, single submitter
267892	46;XX;t(4;14)(p15.2;q13)dn		Likely pathogenic	criteria provided, single submitter
812956	Single allele	C1QTNF5	Likely pathogenic	no assertion criteria provided
812972	NM_002049.4(GATA1):c.680C>T (p.Ala227Val)	GATA1	Likely pathogenic	no assertion criteria provided
812886	NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)	NRAS	Likely pathogenic	no assertion criteria provided
812883	NM_000975.5(RPL11):c.142_143dup (p.Val49fs)	RPL11	Likely pathogenic	no assertion criteria provided
812897	NM_001029.5(RPS26):c.312+2T>A	RPS26	Likely pathogenic	no assertion criteria provided
812890	NM_003126.4(SPTA1):c.2464+1G>A	SPTA1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
373944	NM_000037.4(ANK1):c.1948A>G (p.Met650Val)	ANK1	Uncertain significance	criteria provided, single submitter
523417	NM_032638.5(GATA2):c.971A>G (p.Lys324Arg)	GATA2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1339481	NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	ITGA3	Uncertain significance	criteria provided, multiple submitters, no conflicts
1338810	NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	SHH	Uncertain significance	criteria provided, single submitter
986742	NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)	YARS1	Uncertain significance	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 78 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RPL11	Orphanet:124	Diamond-Blackfan anemia
RPS26	Orphanet:124	Diamond-Blackfan anemia
SHH	Orphanet:220386	Semilobar holoprosencephaly
SHH	Orphanet:280195	Septopreoptic holoprosencephaly
SHH	Orphanet:280200	Microform holoprosencephaly
SHH	Orphanet:476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
SHH	Orphanet:485275	Acquired schizencephaly
SHH	Orphanet:93321	Isolated radial hemimelia
SHH	Orphanet:93336	Polydactyly of a triphalangeal thumb
SHH	Orphanet:93405	Syndactyly type 4
SHH	Orphanet:93924	Lobar holoprosencephaly
SHH	Orphanet:93925	Alobar holoprosencephaly
SHH	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly
SHH	Orphanet:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
SHH	Orphanet:98938	Colobomatous microphthalmia
SPTA1	Orphanet:288	Hereditary elliptocytosis
SPTA1	Orphanet:822	Hereditary spherocytosis
SPTB	Orphanet:288	Hereditary elliptocytosis
SPTB	Orphanet:822	Hereditary spherocytosis
KDM6A	Orphanet:2322	Kabuki syndrome
NSD2	Orphanet:280	Wolf-Hirschhorn syndrome
YARS1	Orphanet:100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
C1QTNF5	Orphanet:67042	Late-onset retinal degeneration
GATA1	Orphanet:124	Diamond-Blackfan anemia
GATA1	Orphanet:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome
GATA1	Orphanet:363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
GATA1	Orphanet:420611	Transient myeloproliferative syndrome
GATA1	Orphanet:67044	Thrombocytopenia with congenital dyserythropoietic anemia
GATA1	Orphanet:79277	Congenital erythropoietic porphyria
GATA1	Orphanet:86849	Acute basophilic leukemia
GATA1	Orphanet:99887	Acute megakaryoblastic leukemia in children with Down syndrome
GATA2	Orphanet:228423	GATA2 deficiency spectrum
HBA1	Orphanet:163596	Hemoglobin Bart’s fetalis syndrome
HBA1	Orphanet:247511	Autosomal dominant secondary polycythemia
HBA1	Orphanet:330041	Hemoglobin M disease
HBA1	Orphanet:707789	Unstable alpha globin chain variant disease
HBA1	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBA1	Orphanet:93616	Hemoglobin H disease
HBA1	Orphanet:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
HBB	Orphanet:2132	Hemoglobin C disease
HBB	Orphanet:2133	Hemoglobin E disease
HBB	Orphanet:231214	Beta-thalassemia major
HBB	Orphanet:231222	Beta-thalassemia intermedia
HBB	Orphanet:231226	Unstable beta globin chain variant disease
HBB	Orphanet:231237	Delta-beta-thalassemia
HBB	Orphanet:231242	Hemoglobin C-beta-thalassemia syndrome
HBB	Orphanet:231249	Hemoglobin E-beta-thalassemia syndrome
HBB	Orphanet:232	Sickle cell anemia
HBB	Orphanet:247511	Autosomal dominant secondary polycythemia
HBB	Orphanet:251365	Sickle cell S-C disease

Cohort genes → proteins

16 cohort genes, 16 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	16

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RPL11	HGNC:10301	ENSG00000142676	P62913	Large ribosomal subunit protein uL5	clinvar
RPS26	HGNC:10414	ENSG00000197728	P62854	Small ribosomal subunit protein eS26	clinvar
SHH	HGNC:10848	ENSG00000164690	Q15465	Sonic hedgehog protein	clinvar
SPTA1	HGNC:11272	ENSG00000163554	P02549	Spectrin alpha chain, erythrocytic 1	clinvar
SPTB	HGNC:11274	ENSG00000070182	P11277	Spectrin beta chain, erythrocytic	clinvar
KDM6A	HGNC:12637	ENSG00000147050	O15550	Lysine-specific demethylase 6A	clinvar
NSD2	HGNC:12766	ENSG00000109685	O96028	Histone-lysine N-methyltransferase NSD2	clinvar
YARS1	HGNC:12840	ENSG00000134684	P54577	Tyrosine–tRNA ligase, cytoplasmic	clinvar
C1QTNF5	HGNC:14344	ENSG00000223953	Q9BXJ0	Complement C1q tumor necrosis factor-related protein 5	clinvar
GATA1	HGNC:4170	ENSG00000102145	P15976	Erythroid transcription factor	clinvar
GATA2	HGNC:4171	ENSG00000179348	P23769	Endothelial transcription factor GATA-2	clinvar
HBA1	HGNC:4823	ENSG00000206172	P69905	Hemoglobin subunit alpha	clinvar
HBB	HGNC:4827	ENSG00000244734	P68871	Hemoglobin subunit beta	clinvar
ANK1	HGNC:492	ENSG00000029534	P16157	Ankyrin-1	clinvar
ITGA3	HGNC:6139	ENSG00000005884	P26006	Integrin alpha-3	clinvar
NRAS	HGNC:7989	ENSG00000213281	P01111	GTPase NRas	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RPL11	Large ribosomal subunit protein uL5	Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.
RPS26	Small ribosomal subunit protein eS26	Component of the small ribosomal subunit.
SHH	Sonic hedgehog protein	The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity.
SPTA1	Spectrin alpha chain, erythrocytic 1	Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane.
SPTB	Spectrin beta chain, erythrocytic	Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane.
KDM6A	Lysine-specific demethylase 6A	Histone demethylase that specifically demethylates ‘Lys-27’ of histone H3, thereby playing a central role in histone code.
NSD2	Histone-lysine N-methyltransferase NSD2	Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at ‘Lys-36’ (H3K36me2).
YARS1	Tyrosine–tRNA ligase, cytoplasmic	Tyrosine–tRNA ligase that catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).
GATA1	Erythroid transcription factor	Transcriptional activator or repressor which serves as a general switch factor for erythroid development.
GATA2	Endothelial transcription factor GATA-2	Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells.
HBA1	Hemoglobin subunit alpha	Involved in oxygen transport from the lung to the various peripheral tissues.
HBB	Hemoglobin subunit beta	Involved in oxygen transport from the lung to the various peripheral tissues.
ANK1	Ankyrin-1	Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane.
ITGA3	Integrin alpha-3	Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4.
NRAS	GTPase NRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Protein-family classification

Druggable: 3 · Difficult: 5 · Unknown: 8 · Druggable fraction: 0.19

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Scaffold/PPI	2	2.2×	0.535
Antibody/Immunoglobulin	1	1.8×	0.535
Transcription factor	3	1.6×	0.535
Enzyme (other)	2	1.5×	0.535
Other/Unknown	8	0.9×	0.765

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RPL11	Other/Unknown	no		Ribosomal_uL5, Ribosomal_uL5_CS, Ribosomal_uL5_dom_sf
RPS26	Other/Unknown	no		Ribosomal_eS26, Ribosomal_eS26_sf, Ribosomal_eS26_CS
SHH	Other/Unknown	no		Hedgehog_signalling_dom, Hedgehog, Hedgehog_Hint
SPTA1	Scaffold/PPI	no		SH3_domain, Spectrin_repeat, EF_hand_dom
SPTB	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
KDM6A	Enzyme (other)	yes	1.14.11.68	JmjC_dom, TPR-like_helical_dom_sf, TPR_rpt
NSD2	Transcription factor	no	2.1.1.356	PWWP_dom, SET_dom, Znf_RING
YARS1	Enzyme (other)	yes	6.1.1.1	aa-tRNA-synth_Ic, Tyr-tRNA-ligase, tRNA-bd_dom
C1QTNF5	Other/Unknown	no		C1q_dom, Collagen, Tumour_necrosis_fac-like_dom
GATA1	Transcription factor	no		Znf_GATA, Znf_NHR/GATA, Transcription_factor_GATA
GATA2	Transcription factor	no		Znf_GATA, Znf_NHR/GATA, TF_GATA-2/3
HBA1	Other/Unknown	no		Globin, Hemoglobin_a-typ, Hemoglobin_pi
HBB	Other/Unknown	no		Globin, Hemoglobin_b, Globin-like_sf
ANK1	Scaffold/PPI	no		Death_dom, ZU5_dom, Ankyrin_rpt
ITGA3	Antibody/Immunoglobulin	yes		Integrin_alpha, FG-GAP, Int_alpha_beta-p
NRAS	Other/Unknown	no		Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type

Expression context

Cohort genes with no expression data: 0.

14 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	16
unknown	0

Top tissues across cohort

Tissue	Cohort genes
monocyte	3
bone marrow	3
trabecular bone tissue	3
cortical plate	2
ganglionic eminence	2
bone marrow cell	2
secondary oocyte	2
blood	2
granulocyte	1
left adrenal gland cortex	1
mucosa of transverse colon	1
buccal mucosa cell	1
epithelial cell of pancreas	1
right lobe of liver	1
gastrocnemius	1
hindlimb stylopod muscle	1
muscle of leg	1
oocyte	1
ventricular zone	1
islet of Langerhans	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RPL11	293	ubiquitous	marker	ganglionic eminence, cortical plate, monocyte
RPS26	140	ubiquitous	marker	granulocyte, left adrenal gland cortex, mucosa of transverse colon
SHH	131	broad	marker	buccal mucosa cell, right lobe of liver, epithelial cell of pancreas
SPTA1	147	tissue_specific	marker	trabecular bone tissue, bone marrow, bone marrow cell
SPTB	220	broad	marker	gastrocnemius, hindlimb stylopod muscle, muscle of leg
KDM6A	286	ubiquitous	yes	secondary oocyte, oocyte, bone marrow cell
NSD2	281	ubiquitous	marker	ventricular zone, ganglionic eminence, cortical plate
YARS1	290	ubiquitous	marker	islet of Langerhans, right adrenal gland, left adrenal gland
C1QTNF5	128	ubiquitous	yes	apex of heart, gall bladder, ascending aorta
GATA1	138	tissue_specific	marker	trabecular bone tissue, blood, bone marrow
GATA2	273	ubiquitous	marker	seminal vesicle, right lung, left uterine tube
HBA1	133	tissue_specific	marker	monocyte, blood, bone marrow
HBB	284	broad	marker	monocyte, trabecular bone tissue, vena cava
ANK1	226	broad	marker	skeletal muscle tissue of rectus abdominis, triceps brachii, body of tongue
ITGA3	149	ubiquitous	marker	metanephric glomerulus, right coronary artery, upper lobe of left lung
NRAS	278	ubiquitous	marker	gingival epithelium, epithelium of nasopharynx, secondary oocyte

Protein interactions among cohort

Intra-cohort edges: 5.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KDM6A	8,825
NRAS	7,598
ANK1	5,705
GATA2	4,979
SHH	4,953
GATA1	4,810
YARS1	4,793
NSD2	3,530
ITGA3	2,079
SPTA1	1,551

Intra-cohort edges

A	B	Sources
ANK1	SPTA1	biogrid_interaction, string_interaction
ANK1	SPTB	biogrid_interaction, string_interaction
GATA1	GATA2	string_interaction
HBA1	HBB	intact
SPTA1	SPTB	intact, string_interaction

Structural data

PDB: 15 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HBA1	P69905	356
HBB	P68871	350
RPS26	P62854	190
RPL11	P62913	185
NRAS	P01111	35
NSD2	O96028	22
ANK1	P16157	21
SHH	Q15465	20
YARS1	P54577	8
SPTB	P11277	6
KDM6A	O15550	5
SPTA1	P02549	3
C1QTNF5	Q9BXJ0	2
GATA2	P23769	2
GATA1	P15976	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ITGA3	P26006	83.88

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 196. Enrichment computed across 16 evidence-associated genes (15 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 15 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Heme assimilation	2	507.6×	8e-04	HBA1, HBB
Interaction between L1 and Ankyrins	3	73.7×	8e-04	SPTA1, SPTB, ANK1
NCAM signaling for neurite out-growth	3	54.4×	0.001	SPTA1, SPTB, NRAS
Erythrocytes take up oxygen and release carbon dioxide	2	169.2×	0.003	HBA1, HBB
Erythrocytes take up carbon dioxide and release oxygen	2	117.1×	0.004	HBA1, HBB
Scavenging of heme from plasma	2	117.1×	0.004	HBA1, HBB
ER to Golgi Anterograde Transport	3	26.6×	0.005	SPTA1, SPTB, ANK1
L1CAM interactions	3	24.0×	0.005	SPTA1, SPTB, ANK1
COPI-mediated anterograde transport	3	22.0×	0.005	SPTA1, SPTB, ANK1
Axon guidance	4	12.0×	0.005	RPS26, SPTA1, SPTB, ANK1
Nervous system development	4	11.4×	0.005	RPS26, SPTA1, SPTB, ANK1
Developmental Biology	6	5.8×	0.005	RPS26, SHH, SPTA1, SPTB, KDM6A, ANK1
Transport to the Golgi and subsequent modification	3	20.6×	0.006	SPTA1, SPTB, ANK1
Factors involved in megakaryocyte development and platelet production	3	13.3×	0.019	GATA1, GATA2, HBB
RAF/MAP kinase cascade	3	12.2×	0.022	SPTA1, SPTB, NRAS
Asparagine N-linked glycosylation	3	12.0×	0.022	SPTA1, SPTB, ANK1
Heme signaling	2	28.7×	0.025	HBA1, HBB
Cytoprotection by HMOX1	2	24.6×	0.032	HBA1, HBB
Signaling by RAS GAP mutants	1	253.8×	0.039	NRAS
Signaling by RAS GTPase mutants	1	253.8×	0.039	NRAS
Activation of RAS in B cells	1	152.3×	0.041	NRAS
HHAT G278V doesn’t palmitoylate Hh-Np	1	152.3×	0.041	SHH
Formation of lateral plate mesoderm	1	152.3×	0.041	SHH
NrCAM interactions	1	108.8×	0.041	ANK1
RAS signaling downstream of NF1 loss-of-function variants	1	108.8×	0.041	NRAS
Estrogen-stimulated signaling through PRKCZ	1	108.8×	0.041	NRAS
SOS-mediated signalling	1	95.2×	0.041	NRAS
Neurofascin interactions	1	95.2×	0.041	ANK1
Release of Hh-Np from the secreting cell	1	95.2×	0.041	SHH
Hh mutants abrogate ligand secretion	1	95.2×	0.041	SHH

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of primitive erythrocyte differentiation	2	1053.2×	1e-04	GATA1, GATA2
eosinophil fate commitment	2	1053.2×	1e-04	GATA1, GATA2
erythrocyte development	3	98.7×	4e-04	GATA1, HBA1, HBB
nitric oxide transport	2	421.3×	7e-04	HBA1, HBB
cellular oxidant detoxification	2	234.1×	0.002	HBA1, HBB
positive regulation of mast cell degranulation	2	191.5×	0.002	GATA1, GATA2
actin filament capping	2	191.5×	0.002	SPTA1, SPTB
carbon dioxide transport	2	162.0×	0.003	HBA1, HBB
oxygen transport	2	131.7×	0.003	HBA1, HBB
hydrogen peroxide catabolic process	2	84.3×	0.008	HBA1, HBB
tyrosyl-tRNA aminoacylation	1	1053.2×	0.009	YARS1
polarity specification of anterior/posterior axis	1	1053.2×	0.009	SHH
trachea morphogenesis	1	1053.2×	0.009	SHH
right lung development	1	1053.2×	0.009	SHH
left lung development	1	1053.2×	0.009	SHH
primary prostatic bud elongation	1	1053.2×	0.009	SHH
regulation of prostatic bud formation	1	1053.2×	0.009	SHH
obsolete regulation of mesenchymal cell proliferation involved in prostate gland development	1	1053.2×	0.009	SHH
mesenchymal smoothened signaling pathway involved in prostate gland development	1	1053.2×	0.009	SHH
semicircular canal development	1	1053.2×	0.009	GATA2
positive regulation of sclerotome development	1	1053.2×	0.009	SHH
tracheoesophageal septum formation	1	1053.2×	0.009	SHH
negative regulation of ureter smooth muscle cell differentiation	1	1053.2×	0.009	SHH
positive regulation of ureter smooth muscle cell differentiation	1	1053.2×	0.009	SHH
negative regulation of kidney smooth muscle cell differentiation	1	1053.2×	0.009	SHH
positive regulation of kidney smooth muscle cell differentiation	1	1053.2×	0.009	SHH
regulation of forebrain neuron differentiation	1	1053.2×	0.009	GATA2
positive regulation of erythrocyte differentiation	2	63.8×	0.009	GATA1, GATA2
response to hydrogen peroxide	2	58.5×	0.009	HBA1, HBB
homeostasis of number of cells within a tissue	2	55.4×	0.009	GATA1, GATA2

Therapeutics

Drugs indicated for this disease

54 approved, 18 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Ascorbic Acid	Approved (phase 4)
Betamethasone Acetate	Approved (phase 4)
Biotin	Approved (phase 4)
Calcium Carbonate	Approved (phase 4)
Cholecalciferol	Approved (phase 4)
Cladribine	Approved (phase 4)
Cupric Sulfate	Approved (phase 4)
Cyanocobalamin	Approved (phase 4)
Daprodustat	Approved (phase 4)
Darbepoetin Alfa	Approved (phase 4)
Decitabine	Approved (phase 4)
Epoetin Alfa	Approved (phase 4)
Epoetin Beta	Approved (phase 4)
Epoetin Delta	Approved (phase 4)
Epoetin Theta	Approved (phase 4)
Epoetin Zeta	Approved (phase 4)
Felbamate	Approved (phase 4)
Ferric Carboxymaltose	Approved (phase 4)
Ferric Derisomaltose	Approved (phase 4)
Ferric Maltol	Approved (phase 4)
Ferrous Fumarate	Approved (phase 4)
Ferrous Succinate	Approved (phase 4)
Ferrous Sulfate	Approved (phase 4)
Ferumoxytol	Approved (phase 4)
Folic Acid	Approved (phase 4)
Hydroxocobalamin	Approved (phase 4)
Imetelstat Sodium	Approved (phase 4)
Imiglucerase	Approved (phase 4)
Intrinsic Factor	Approved (phase 4)
Iron Dextran	Approved (phase 4)
Iron Sucrose	Approved (phase 4)
Isopropyl Alcohol	Approved (phase 4)
Lenalidomide	Approved (phase 4)
Levoleucovorin	Approved (phase 4)
Luspatercept	Approved (phase 4)
Mecobalamin	Approved (phase 4)
Methoxy Polyethylene Glycol-Epoetin Beta	Approved (phase 4)
Methylprednisolone Acetate	Approved (phase 4)
Niacin	Approved (phase 4)
Niacinamide	Approved (phase 4)
Pentostatin	Approved (phase 4)
Potassium Iodide	Approved (phase 4)
Prednisolone Acetate	Approved (phase 4)
Prednisone	Approved (phase 4)
Pyridoxine	Approved (phase 4)
Riboflavin	Approved (phase 4)
Roxadustat	Approved (phase 4)
Sodium Ascorbate	Approved (phase 4)
Sodium Citrate	Approved (phase 4)
Triamcinolone Acetonide	Approved (phase 4)
Vadadustat	Approved (phase 4)
Voxelotor	Approved (phase 4)
Zinc Oxide	Approved (phase 4)
Zinc Sulfate	Approved (phase 4)
Blood Cells, Red	Phase 3 (in late-stage trials)
Carboplatin	Phase 3 (in late-stage trials)
Cisplatin	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Efepoetin Alfa	Phase 3 (in late-stage trials)
Ferric Pyrophosphate	Phase 3 (in late-stage trials)
Ferrous Ascorbate	Phase 3 (in late-stage trials)
Ferrous Bisglycinate	Phase 3 (in late-stage trials)
Filgrastim	Phase 3 (in late-stage trials)
Mebendazole	Phase 3 (in late-stage trials)
Paclitaxel	Phase 3 (in late-stage trials)
Peginesatide	Phase 3 (in late-stage trials)
Polyethylene Glycol	Phase 3 (in late-stage trials)
Pyrimethamine	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)
Sodium Ferric Gluconate Complex	Phase 3 (in late-stage trials)
Sulfadoxine	Phase 3 (in late-stage trials)
Tranexamic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetylcholine, Blood, Whole, Deferasirox, Ruxolitinib, Sirolimus, Sotatercept, Tilarginine, Tretinoin.

Drug target analysis

Approved (phase 4): 7 · Phase ≥3: 7 · Phased (≥1): 8 · Undrugged: 8

Druggability breadth: 11 of 16 evidence-associated genes (69%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
RPL11	GENTAMICIN SULFATE
RPS26	GENTAMICIN SULFATE
SHH	VISMODEGIB
KDM6A	DEFERIPRONE
NSD2	VENETOCLAX
YARS1	CAPSAICIN
HBB	CANDESARTAN CILEXETIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HBB	23	4
NSD2	8	4
YARS1	2	4
RPL11	1	4
RPS26	1	4
SHH	1	4
KDM6A	1	4
NRAS	1	1
SPTA1	0	0
SPTB	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
GENTAMICIN SULFATE	4	RPL11, RPS26
VISMODEGIB	4	SHH
DEFERIPRONE	4	KDM6A
VENETOCLAX	4	NSD2
MITOXANTRONE	4	NSD2
CAPSAICIN	4	YARS1
CANDESARTAN CILEXETIL	4	HBB
MECHLORETHAMINE HYDROCHLORIDE	4	HBB
PHENAZOPYRIDINE HYDROCHLORIDE	4	HBB
MERCAPTOPURINE ANHYDROUS	4	HBB
AZACITIDINE	4	HBB
AZATHIOPRINE	4	HBB
TOPOTECAN HYDROCHLORIDE	4	HBB
ACYCLOVIR	4	HBB
FLUOROURACIL	4	HBB
RAUWOLFIA SERPENTINA	4	HBB
HYDROQUINONE	4	HBB
MENADIONE	4	HBB
THIOTEPA	4	HBB
THIOGUANINE	4	HBB
RESERPINE	4	HBB
SURAMIN	3	NSD2
CRENOLANIB	3	YARS1
CURCUMIN	3	HBB
HYDROXYCAMPTOTHECIN	3	HBB
SINEFUNGIN	2	NSD2
MOLIBRESIB	2	HBB, NSD2
HOMIDIUM BROMIDE	2	NSD2
FISETIN	2	HBB
TEROXIRONE	2	HBB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
NSD2	264	Binding:256, Functional:8
RPL11	90	Binding:90
RPS26	89	Binding:89
HBB	68	Binding:50, Functional:18
HBA1	59	Binding:46, Functional:13
KDM6A	40	Binding:36, Functional:4
SHH	27	Binding:23, Functional:4
NRAS	18	Binding:18
YARS1	16	Binding:16
ITGA3	5	Binding:5
GATA2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
KDM6A	1.14.11.68	[histone H3]-trimethyl-L-lysine27 demethylase
NSD2	2.1.1.356, 2.1.1.357, 2.1.1.359	[histone H3]-lysine27 N-trimethyltransferase, [histone H3]-lysine36 N-dimethyltransferase, [histone H3]-lysine36 N-trimethyltransferase
YARS1	6.1.1.1	tyrosine-tRNA ligase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
NSD2	264

Pharmacogenomics

Cohort genes with a PharmGKB record: 16; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
GENTAMICIN SULFATE	4	RPL11, RPS26
VISMODEGIB	4	SHH
DEFERIPRONE	4	KDM6A
VENETOCLAX	4	NSD2
MITOXANTRONE	4	NSD2
CAPSAICIN	4	YARS1
CANDESARTAN CILEXETIL	4	HBB
MECHLORETHAMINE HYDROCHLORIDE	4	HBB
PHENAZOPYRIDINE HYDROCHLORIDE	4	HBB
MERCAPTOPURINE ANHYDROUS	4	HBB
AZACITIDINE	4	HBB
AZATHIOPRINE	4	HBB
TOPOTECAN HYDROCHLORIDE	4	HBB
ACYCLOVIR	4	HBB
FLUOROURACIL	4	HBB
RAUWOLFIA SERPENTINA	4	HBB
HYDROQUINONE	4	HBB
MENADIONE	4	HBB
THIOGUANINE	4	HBB
RESERPINE	4	HBB
SURAMIN	3	NSD2
CRENOLANIB	3	YARS1
CURCUMIN	3	HBB
HYDROXYCAMPTOTHECIN	3	HBB
SINEFUNGIN	2	NSD2
MOLIBRESIB	2	HBB, NSD2
HOMIDIUM BROMIDE	2	NSD2
FISETIN	2	HBB
TEROXIRONE	2	HBB

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	7	RPL11, RPS26, SHH, KDM6A, NSD2, YARS1, HBB
B	Phased (≥1) drug, not yet approved	1	NRAS
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	ITGA3
E	Difficult family or no structure, no drug	7	SPTA1, SPTB, C1QTNF5, GATA1, GATA2, HBA1, ANK1

Undrugged target profiles

8 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
HBA1	59	HBB
SPTA1	0	—
SPTB	0	—
C1QTNF5	0	—
GATA1	0	—
GATA2	1	—
ANK1	0	—
ITGA3	5	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1,177.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	427
PHASE3	243
PHASE2	186
PHASE4	146
PHASE1	55
PHASE1/PHASE2	22
PHASE2/PHASE3	16
EARLY_PHASE1	5

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04168346	PHASE4	NOT_YET_RECRUITING	Preoperative Intravenous Iron Therapy in Patients With Gastric Cancer
NCT04707261	PHASE4	RECRUITING	Association Between Dapagliflozin-induced Improvement and Anemia in Heart Failure Patients (ADIDAS)
NCT05060731	PHASE4	NOT_YET_RECRUITING	Iron Supplementation in Upper Non-variceal Gastrointestinal Bleeding
NCT05891249	PHASE4	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Effectiveness of Luspatercept for the Treatment of Transfusion-dependent (TD) Anemia Associated With Myelodysplastic Syndromes (MDS) & Beta-thalassemia (β-Thal) in India
NCT05929729	PHASE4	RECRUITING	Iron Deficiency Anemia (IDA) and the Brain
NCT06624631	PHASE4	RECRUITING	PDMC Implementation Trial in Kenya
NCT06670963	PHASE4	RECRUITING	Use of Epoetin Alfa and Iron Derisomaltose in Treatment of Anemia in Patients With Sepsis or Septic Shock: a Randomized Controlled Trial
NCT06898814	PHASE4	RECRUITING	The Effects of Intravenous Iron on Mobility in Elderly Patients Following Hip Fracture Surgery
NCT07038330	PHASE4	NOT_YET_RECRUITING	DOSE FINDING PROSPECTIVE ANALYSIS AFTER HEART SURGERY for Sucrosomial Iron
NCT07160452	PHASE4	NOT_YET_RECRUITING	Levocarnitine for Reducing ESA Requirements in Hemodialysis Patients With Renal Anemia
NCT07238972	PHASE4	NOT_YET_RECRUITING	Postoperative Intravenous Ferric Derisomaltose for Prevention of Long-term Anemia After Cardiac Surgery
NCT07287371	PHASE4	NOT_YET_RECRUITING	Sucrosomial Vs Intravenous Iron for Preoperative Anemia
NCT07308769	PHASE4	RECRUITING	Efficacy and Tolerability of Sucrosomial® Iron vs Ferric Maltol in Iron Deficient Women
NCT07314424	PHASE4	NOT_YET_RECRUITING	The Effect of Preoperative Intravenous Ferric Derisomaltose and EPO and Tranexamic Acid in Patients With Preoperative Anemia or Iron Deficiency in Bone Tumor
NCT07523646	PHASE4	RECRUITING	Anemia Therapy in Patients With Infective Endocarditis
NCT00003398	PHASE4	COMPLETED	Bone Marrow Transplantation in Treating Patients With Hematologic Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00046969	PHASE4	COMPLETED	Epoetin Beta in Treating Anemia in Patients With Cervical Cancer
NCT00111995	PHASE4	COMPLETED	Evaluating Aranesp® for the Treatment of Anemia in African-American Subjects With Chronic Renal Failure (CRF) Receiving Hemodialysis
NCT00117039	PHASE4	COMPLETED	A Study to Evaluate the Effectiveness of Aranesp® for Cancer Patients With Anemia
NCT00117065	PHASE4	COMPLETED	Study of Transplant Related Anemia Treated With Aranesp® (STRATA)
NCT00117117	PHASE4	COMPLETED	A Study to Assess Symptom Burden in Subjects With Nonmyeloid Malignancies Receiving Chemotherapy and Aranesp®
NCT00126334	PHASE4	COMPLETED	Conservative Versus Liberal Red Cell Transfusion in Myocardial Infarction Trial: The CRIT Pilot
NCT00153868	PHASE4	COMPLETED	A Web-based Study of Quality of Life Benefits Associated Aranesp in Anemic Patients With Cancer
NCT00168948	PHASE4	UNKNOWN	Intermittent Antimalaria Treatment With SP in African Children
NCT00173706	PHASE4	UNKNOWN	Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis
NCT00194857	PHASE4	TERMINATED	Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin
NCT00204334	PHASE4	COMPLETED	Effects of Anemia Correction on Vascular and Monocyte Function in Renal Transplant Recipients
NCT00206739	PHASE4	COMPLETED	Intermittent Treatment With Sulfadoxine-pyrimethamine for Malaria Control in Infants
NCT00211120	PHASE4	TERMINATED	Correction of Hemoglobin and Outcomes in Renal Insufficiency (CHOIR)
NCT00216541	PHASE4	COMPLETED	A Study of the Safety and Effectiveness of Epoetin Alfa on Hemoglobin Levels and Blood Transfusions in Cancer Patients Receiving Chemotherapy
NCT00223938	PHASE4	TERMINATED	Study of the Efficacy and Safety of Ferrlecit in the Maintenance Dosing in Hemodialysis Patients.
NCT00223964	PHASE4	COMPLETED	Study of the Efficacy of Two Doses of Ferrlecit in the Treatment of Iron Deficiency in Pediatric Hemodialysis Patients
NCT00224003	PHASE4	COMPLETED	Study of the Safety and Efficacy of Ferrlecit® Maintenance Dosing in Pediatric Hemodialysis Patients
NCT00224068	PHASE4	COMPLETED	Effect of Iron Therapy as an Adjunct to Epoetin Alfa in the Anemia of Cancer Chemotherapy
NCT00239642	PHASE4	COMPLETED	Safety and Efficacy of Iron Sucrose in Children
NCT00247507	PHASE4	UNKNOWN	The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients
NCT00248716	PHASE4	UNKNOWN	Treatment of Anemia in the 2nd Year of Life. Comparison of the Efficacy of Two Different Iron Preparations.
NCT00283465	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Treatment With Epoetin Alfa on Hemoglobin Levels, Red Blood Cell Transfusions, and Quality of Life in Patients With Cancer Receiving Platinum-containing Chemotherapy
NCT00312871	PHASE4	TERMINATED	Effects of Early Correction of Anemia in Patients With Chronic Renal Insufficiency

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EPOETIN ALFA	4	67
DARBEPOETIN ALFA	4	58
EPOETIN BETA	4	24
FERRIC CARBOXYMALTOSE	4	22
METHOXY POLYETHYLENE GLYCOL-EPOETIN BETA	4	22
PEGINESATIDE	4	18
FERROUS SULFATE	4	17
IRON SUCROSE	4	12
FERROUS FUMARATE	4	8
CYCLOPHOSPHAMIDE ANHYDROUS	4	6
FERRIC DERISOMALTOSE	4	6
ALBENDAZOLE	4	5
FERUMOXYTOL	4	4
CINACALCET	4	3
CYANOCOBALAMIN	4	3
FOLIC ACID	4	3
SULFADOXINE	4	3
ASCORBIC ACID	4	2
CHOLECALCIFEROL	4	2
EPOETIN DELTA	4	2
FERROUS GLUCONATE	4	2
FILGRASTIM	4	2
LEVOCARNITINE	4	2
PARICALCITOL	4	2
QUININE	4	2
THIOTEPA	4	2
ACETYLCYSTEINE	4	1
ARTESUNATE	4	1
CALCITRIOL	4	1
CARBETOCIN	4	1