RPL18

Summary

RPL18 (ribosomal protein L18, HGNC:10310) is a protein-coding gene on chromosome 19q13.33, encoding Large ribosomal subunit protein eL18 (Q07020). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 6141 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 18 (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 144 total — 1 likely-pathogenic
• Phenotypes (HPO): 62
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_000979

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10310
Approved symbol	RPL18
Name	ribosomal protein L18
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	L18, eL18
Ensembl gene	ENSG00000063177
Ensembl biotype	protein_coding
OMIM	604179
Entrez	6141

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 20 protein_coding, 7 retained_intron, 1 non_stop_decay, 1 nonsense_mediated_decay

ENST00000084795, ENST00000546623, ENST00000547892, ENST00000547897, ENST00000549273, ENST00000549370, ENST00000549533, ENST00000549920, ENST00000550645, ENST00000550671, ENST00000550973, ENST00000551749, ENST00000552347, ENST00000552588, ENST00000552705, ENST00000552851, ENST00000901609, ENST00000919793, ENST00000919794, ENST00000919795, ENST00000919796, ENST00000919797, ENST00000919798, ENST00000919799, ENST00000919800, ENST00000919801, ENST00000919802, ENST00000919803, ENST00000950806

RefSeq mRNA: 2 — MANE Select: NM_000979 NM_000979, NM_001270490

CCDS: CCDS12726, CCDS58669

Canonical transcript exons

ENST00000549920 — 7 exons

Exon	Start	End
ENSE00002365211	48619141	48619178
ENSE00003473433	48616079	48616202
ENSE00003479382	48616726	48616824
ENSE00003572556	48615877	48615946
ENSE00003627949	48615331	48615447
ENSE00003675917	48617791	48617877
ENSE00003689442	48617316	48617423

Expression profiles

Bgee: expression breadth ubiquitous, 304 present calls, max score 99.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 487.0301 / max 3911.9327, expressed in 1827 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181878	481.0164	1827
181874	2.3242	919
181877	1.5036	985
181876	1.0599	694
181875	0.7166	398
181873	0.4095	215

Top tissues by expression

304 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nipple	UBERON:0002030	99.95	gold quality
penis	UBERON:0000989	99.94	gold quality
adult organism	UBERON:0007023	99.92	gold quality
skin of hip	UBERON:0001554	99.90	gold quality
upper leg skin	UBERON:0004262	99.90	gold quality
lower esophagus mucosa	UBERON:0035834	99.89	gold quality
urethra	UBERON:0000057	99.88	gold quality
right uterine tube	UBERON:0001302	99.87	gold quality
mammalian vulva	UBERON:0000997	99.86	gold quality
pylorus	UBERON:0001166	99.86	gold quality
left ovary	UBERON:0002119	99.86	gold quality
right ovary	UBERON:0002118	99.85	gold quality
upper arm skin	UBERON:0004263	99.85	gold quality
oral cavity	UBERON:0000167	99.84	gold quality
cardia of stomach	UBERON:0001162	99.84	gold quality
superficial temporal artery	UBERON:0001614	99.84	gold quality
cartilage tissue	UBERON:0002418	99.84	gold quality
superior surface of tongue	UBERON:0007371	99.84	gold quality
pharyngeal mucosa	UBERON:0000355	99.83	gold quality
skin of leg	UBERON:0001511	99.83	gold quality
trachea	UBERON:0003126	99.83	gold quality
caput epididymis	UBERON:0004358	99.83	gold quality
corpus epididymis	UBERON:0004359	99.83	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.83	gold quality
pituitary gland	UBERON:0000007	99.82	gold quality
zone of skin	UBERON:0000014	99.82	gold quality
skin of abdomen	UBERON:0001416	99.82	gold quality
adenohypophysis	UBERON:0002196	99.82	gold quality
colonic mucosa	UBERON:0000317	99.81	gold quality
ovary	UBERON:0000992	99.81	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	103.22
E-CURD-88	yes	65.00
E-MTAB-9221	yes	54.33
E-MTAB-9067	yes	27.73
E-CURD-112	yes	27.47
E-HCAD-9	yes	23.94
E-MTAB-10042	yes	16.10
E-MTAB-9543	yes	14.88
E-GEOD-135922	yes	12.09
E-HCAD-35	yes	9.51
E-MTAB-11121	no	5844.71
E-MTAB-8410	no	5635.13
E-MTAB-10283	no	4580.76
E-CURD-79	no	4482.48
E-MTAB-8530	no	4383.97

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• Silencing of the RPL-18 does not affect cell translation efficiency or viability, but it reduces significantly viral translation, replication and viral yield, suggesting that the RPL-18 is required during the Dengue virus replicative cycle. (PMID:26092250)
• Decreased expression of RPL15 and RPL18 exacerbated the calcification of valve interstitial cells during aortic valve calcification. (PMID:37431269)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl18	ENSDARG00000029533
drosophila_melanogaster	RpL18	FBGN0035753
caenorhabditis_elegans		WBGENE00004430

Protein

Protein identifiers

Large ribosomal subunit protein eL18 — Q07020 (reviewed: Q07020)

Alternative names: 60S ribosomal protein L18

All UniProt accessions (8): Q07020, A0A075B7A0, F8VUA6, F8VXR6, F8VYV2, G3V203, H0YHA7, J3QQ67

UniProt curated annotations — full annotation on UniProt →

Function. Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.

Subunit / interactions. Component of the large ribosomal subunit.

Subcellular location. Cytoplasm. Cytosol. Rough endoplasmic reticulum.

Disease relevance. Diamond-Blackfan anemia 18 (DBA18) [MIM:618310] A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the eukaryotic ribosomal protein eL18 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q07020-1	1	yes
Q07020-2	2

RefSeq proteins (2): NP_000970, NP_001257419 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000039	Ribosomal_eL18	Family
IPR021131	Ribosomal_uL15/eL18	Domain
IPR021132	Ribosomal_eL18/eL18-A/B/_CS	Conserved_site
IPR036227	Ribosomal_uL15/eL18_sf	Homologous_superfamily

Pfam: PF17135

UniProt features (12 total): compositionally biased region 2, modified residue 2, cross-link 2, initiator methionine 1, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

196 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9GUL	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
8G5Y	ELECTRON MICROSCOPY	2.29
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
7OW7	ELECTRON MICROSCOPY	2.4
8K2C	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
8FKV	ELECTRON MICROSCOPY	2.47
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07020-F1	95.51	0.96

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 130, 158, 119, 164

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA

MSigDB gene sets: 422 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCM_NPM1, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_UBE2I, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, MORF_CCNI, MODULE_285

GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (12): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), rough endoplasmic reticulum (GO:0005791), cytosol (GO:0005829), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Signaling by ROBO receptors	1
Cellular response to starvation	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ribosome	2
intracellular membrane-bounded organelle	2
intracellular membraneless organelle	2
cytoplasm	2
translation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
nucleic acid binding	1
structural molecule activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
endomembrane system	1
endoplasmic reticulum	1
cell-substrate junction	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
protein-containing complex	1

Protein interactions and networks

STRING

3602 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL18	RPS25	P25111	791
RPL18	RPL3	P39023	786
RPL18	RPL27	P08526	780
RPL18	RPL12	P30050	778
RPL18	RPL28	P46779	776
RPL18	RPSA	P08865	766
RPL18	RPL15	P39030	760
RPL18	RPS10	P46783	741
RPL18	RPLP0	P05388	740
RPL18	RPL4	P36578	736
RPL18	RPS19	P39019	731
RPL18	RPL5	P46777	724
RPL18	RPL14	P50914	717
RPL18	RPL6	Q02878	717
RPL18	RPS3	P23396	715
RPL18	RPS8	P09058	715

IntAct

281 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RPL4	RPL18	psi-mi:“MI:0915”(physical association)	0.670
FAM90A1	KPNA3	psi-mi:“MI:0914”(association)	0.670
INAVA	CYTH3	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
HTT	RPL18	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	RPL18	psi-mi:“MI:0915”(physical association)	0.560
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530

BioGRID (839): RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), HNRNPU (Co-fractionation), HNRNPUL2 (Co-fractionation), PABPC1 (Co-fractionation), PABPC4 (Co-fractionation), RPL10 (Co-fractionation)

ESM2 similar proteins: D0VWQ3, G1T6D1, G1TFE0, G1U7L1, P02412, P09897, P12001, P17702, P35980, P40590, P41098, P41105, P46779, P61367, P61368, P61369, P62829, P62830, P62831, P62832, P69090, P69091, Q07020, Q08200, Q3T057, Q3T0L7, Q4R5H8, Q5E973, Q5REU2, Q6P1L8, Q6PC14, Q6QMZ8, Q7T2N4, Q7T2N5, Q7T3M9, Q7T3N1, Q7T3N2, Q7T3N3, Q7T3N4, Q7T3N6

Diamond homologs: A0A1D8PK43, A3F4S0, A7IAH4, B6YSQ4, D0VWQ3, G1TFE0, O22254, O45946, O59302, O65729, P02412, P09897, P0CX49, P0CX50, P0DJ17, P12001, P24558, P35980, P42791, P50885, P54022, P69090, P69091, Q07020, Q0PXY6, Q10192, Q1HR62, Q2FTA2, Q2M0G4, Q4DZP2, Q4GXG7, Q4N438, Q4PM04, Q4QG98, Q4R5H8, Q4UFD5, Q54VZ4, Q56FG8, Q5E973, Q5UAS1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL18	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 206 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
TRAF6 mediated NF-kB activation	5	15.1×	7e-04
SRP-dependent cotranslational protein targeting to membrane	21	13.9×	1e-15
Peptide chain elongation	16	13.4×	4e-12
Viral mRNA Translation	16	13.4×	4e-12
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	16	13.3×	4e-12
Selenocysteine synthesis	16	12.7×	7e-12
Eukaryotic Translation Termination	16	12.7×	7e-12
Formation of a pool of free 40S subunits	17	12.6×	3e-12

GO biological processes:

GO term	Partners	Fold	FDR
stress granule assembly	6	19.8×	1e-04
cytoplasmic translation	19	19.3×	2e-16
ribosomal large subunit biogenesis	7	17.1×	5e-05
translational initiation	6	11.8×	1e-03
intrinsic apoptotic signaling pathway	6	11.8×	1e-03
translation	18	10.2×	1e-10
rRNA processing	13	10.1×	2e-07
ribosomal small subunit biogenesis	8	10.0×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

144 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	54
Likely benign	60
Benign	18

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
617666	NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)	Likely pathogenic

SpliceAI

689 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48615869:ATACT:A	donor_loss	1.0000
19:48615871:ACT:A	donor_loss	1.0000
19:48615872:CTC:C	donor_loss	1.0000
19:48615872:CTCA:C	donor_gain	1.0000
19:48615873:TCA:T	donor_loss	1.0000
19:48615874:CA:C	donor_loss	1.0000
19:48615875:A:AC	donor_gain	1.0000
19:48615875:ACT:A	donor_loss	1.0000
19:48615876:C:CC	donor_gain	1.0000
19:48615876:CT:C	donor_gain	1.0000
19:48615876:CTT:C	donor_gain	1.0000
19:48615876:CTTG:C	donor_gain	1.0000
19:48615876:CTTGG:C	donor_gain	1.0000
19:48615942:AGGAC:A	acceptor_gain	1.0000
19:48615943:GGAC:G	acceptor_gain	1.0000
19:48615944:GAC:G	acceptor_gain	1.0000
19:48615944:GACCT:G	acceptor_gain	1.0000
19:48615945:AC:A	acceptor_gain	1.0000
19:48615945:ACCT:A	acceptor_gain	1.0000
19:48615946:CC:C	acceptor_gain	1.0000
19:48615947:C:CC	acceptor_gain	1.0000
19:48615947:C:T	acceptor_gain	1.0000
19:48616074:CTCA:C	donor_loss	1.0000
19:48616075:TCAC:T	donor_loss	1.0000
19:48616076:CAC:C	donor_loss	1.0000
19:48616077:A:AC	donor_gain	1.0000
19:48616077:AC:A	donor_gain	1.0000
19:48616077:ACCGG:A	donor_loss	1.0000
19:48616078:C:CT	donor_gain	1.0000
19:48616078:CC:C	donor_gain	1.0000

AlphaMissense

1199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:48615912:G:C	F152L	1.000
19:48615912:G:T	F152L	1.000
19:48615914:A:G	F152L	1.000
19:48615404:C:G	G179R	0.999
19:48615405:T:A	R178S	0.999
19:48615405:T:G	R178S	0.999
19:48615406:C:A	R178I	0.999
19:48615406:C:G	R178T	0.999
19:48615417:G:C	F174L	0.999
19:48615417:G:T	F174L	0.999
19:48615419:A:G	F174L	0.999
19:48615428:C:G	G171R	0.999
19:48615898:C:T	G157E	0.999
19:48615899:C:G	G157R	0.999
19:48615899:C:T	G157R	0.999
19:48615946:C:T	G141D	0.999
19:48616079:C:G	G141R	0.999
19:48616090:A:T	V137D	0.999
19:48616120:G:T	A127D	0.999
19:48616123:A:G	L126P	0.999
19:48616195:G:T	A102E	0.999
19:48616766:A:T	I86K	0.999
19:48616772:C:T	G84E	0.999
19:48616773:C:A	G84W	0.999
19:48616773:C:G	G84R	0.999
19:48616773:C:T	G84R	0.999
19:48616781:A:T	V81E	0.999
19:48617362:A:G	L51S	0.999
19:48617365:C:A	R50M	0.999
19:48617410:A:G	L35P	0.999

dbSNP variants (sampled 300 via entrez): RS1000516718 (19:48618471 C>A,T), RS1001216090 (19:48617562 G>A), RS1001586851 (19:48618259 GCAATACTACTAGAACCA>G), RS1002111853 (19:48620760 C>A,T), RS1002227476 (19:48614911 G>A,T), RS1002488838 (19:48620970 C>G,T), RS1002691834 (19:48618148 A>C), RS1003223107 (19:48615353 A>G), RS1003300202 (19:48620827 G>C), RS1003395168 (19:48620508 C>T), RS1003753390 (19:48619759 T>G), RS1004113506 (19:48618813 T>A), RS1005906488 (19:48616953 C>T), RS1005957960 (19:48621092 ATT>A), RS1007203189 (19:48621143 G>A)

Disease associations

OMIM: gene MIM:604179 | disease phenotypes: MIM:618310

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 18	Moderate	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia 18 (MONDO:0032668), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (0):

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001199	Triphalangeal thumb
HP:0001227	Abnormality of the thenar eminence
HP:0001254	Lethargy
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001241_6	Bipolar disorder	3.000000e-06
GCST002485_8	Elevated serum carcinoembryonic antigen levels	7.000000e-12
GCST010134_4	Non-oily fish consumption	3.000000e-16
GCST010135_4	Oily fish consumption	2.000000e-16
GCST010140_48	Pork consumption	2.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005760	serum carcinoembryonic antigen measurement
EFO:0008111	diet measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067540 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

48 potent at pChembl≥5 of 52 total, top 47 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.97	Kd	107.4	nM	CHEMBL5653589
6.97	ED50	107.4	nM	CHEMBL5653589
6.52	IC50	300	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	IC50	690	nM	CHEMBL4130157
6.15	IC50	710	nM	CHEMBL4108338
6.11	IC50	780	nM	CHEMBL4114159
6.09	IC50	820	nM	CHEMBL4109308
6.07	IC50	850	nM	CHEMBL4107559
6.07	IC50	850	nM	CHEMBL4533299
6.05	IC50	900	nM	CHEMBL4126894
6.05	IC50	900	nM	CHEMBL4126496
6.04	IC50	920	nM	CHEMBL4554909
5.97	IC50	1060	nM	CHEMBL4128388
5.89	IC50	1290	nM	CHEMBL4130157
5.86	IC50	1370	nM	CHEMBL4107559
5.84	IC50	1440	nM	CHEMBL4108338
5.81	IC50	1540	nM	CHEMBL4534859
5.76	IC50	1730	nM	CHEMBL4534859
5.69	IC50	2050	nM	CHEMBL4566239
5.68	IC50	2080	nM	CHEMBL4446635
5.66	IC50	2210	nM	CHEMBL4446635
5.66	EC50	2200	nM	CHEMBL4464929
5.64	IC50	2270	nM	CHEMBL4533299
5.63	IC50	2330	nM	CHEMBL4566239
5.62	IC50	2380	nM	CHEMBL4128388
5.58	IC50	2630	nM	CHEMBL4128250
5.55	IC50	2820	nM	CHEMBL4127458
5.53	IC50	2970	nM	CHEMBL4127311
5.51	IC50	3080	nM	CHEMBL4126072
5.46	IC50	3500	nM	CHEMBL4525277
5.44	IC50	3630	nM	CHEMBL4469712
5.39	IC50	4100	nM	CHEMBL4128560
5.37	IC50	4300	nM	CHEMBL4127016
5.36	IC50	4380	nM	CHEMBL4527910
5.16	IC50	7000	nM	CHEMBL4109308
5.13	IC50	7400	nM	CHLORAMPHENICOL SULFATE SALT
5.09	IC50	8040	nM	CHEMBL4128250
5.08	IC50	8370	nM	CHEMBL4128250
5.03	IC50	9320	nM	CHEMBL4127016
5.03	IC50	9240	nM	CHEMBL4128560

PubChem BioAssay actives

47 with measured affinity, of 207 total; 27 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149248: Binding affinity to human RPL18 incubated for 45 mins by Kinobead based pull down assay	kd	0.1074	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3800	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3900	uM
N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4100	uM
N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4500	uM
N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.5000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.6900	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.7100	uM
N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.9200	uM
N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	1.0600	uM
N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	1.5400	uM
N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.0500	uM
N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	2.0800	uM
N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion	ec50	2.2000	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
2,2-dichloro-N-[(1R,2R)-1,3-dihydroxy-1-(4-nitrophenyl)propan-2-yl]acetamide;sulfuric acid	717551: Inhibition of mitochondrial ribosome-mediated protein synthesis in human HeLa cells assessed as {35S]methionine incorporation by autoradiography	ic50	7.4000	uM

CTD chemical–gene interactions

51 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	4
sodium arsenite	increases methylation, affects cotreatment, decreases expression, affects reaction, increases expression (+3 more)	4
methacrylaldehyde	affects cotreatment, increases oxidation, decreases expression, increases abundance	2
Acrolein	increases oxidation, decreases expression, increases abundance, affects cotreatment	2
Ozone	affects cotreatment, increases oxidation, decreases expression, increases abundance	2
aristolochic acid I	decreases expression, increases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	increases expression	1
AKT activator SC79	increases expression, increases reaction	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, affects localization	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	increases expression	1
artenimol	affects binding	1
perfluorooctane sulfonic acid	increases expression	1
chloropicrin	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	increases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1

ChEMBL screening assays

90 unique, capped per target: 90 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1920845	Binding	Induction of ribosome to readthrough in human A-T lymphoblastoid cells assessed as ATM ser1981 autophosphorylation at 30 uM after 4 days by PTT-ELISA assay	Synthesis and evaluation of compounds that induce readthrough of premature termination codons. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

38 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)