RPL9

Summary

RPL9 (ribosomal protein L9, HGNC:10369) is a protein-coding gene on chromosome 4p14, encoding Large ribosomal subunit protein uL6 (P32969). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% 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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6133 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 111 total
• Phenotypes (HPO): 59
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_000661

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10369
Approved symbol	RPL9
Name	ribosomal protein L9
Location	4p14
Locus type	gene with protein product
Status	Approved
Aliases	L9, uL6
Ensembl gene	ENSG00000163682
Ensembl biotype	protein_coding
OMIM	603686
Entrez	6133

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 26 protein_coding, 8 retained_intron

ENST00000295955, ENST00000437992, ENST00000449470, ENST00000503040, ENST00000503277, ENST00000506581, ENST00000508595, ENST00000511075, ENST00000511643, ENST00000514842, ENST00000642337, ENST00000644328, ENST00000645496, ENST00000645585, ENST00000645894, ENST00000894374, ENST00000894375, ENST00000894376, ENST00000894377, ENST00000894378, ENST00000894379, ENST00000894380, ENST00000928672, ENST00000928673, ENST00000928674, ENST00000928675, ENST00000928676, ENST00000928677, ENST00000928678, ENST00000928679, ENST00000928680, ENST00000928681, ENST00000928682, ENST00000961349

RefSeq mRNA: 2 — MANE Select: NM_000661 NM_000661, NM_001024921

CCDS: CCDS3452

Canonical transcript exons

ENST00000295955 — 8 exons

Exon	Start	End
ENSE00001863624	39454124	39454225
ENSE00002021328	39458891	39458922
ENSE00003595055	39456406	39456538
ENSE00003611780	39454533	39454649
ENSE00003632782	39454864	39454944
ENSE00003635900	39458194	39458309
ENSE00003671095	39457586	39457681
ENSE00003674466	39458394	39458440

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.3353 / max 731.2733, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51845	53.7961	1819
51844	3.1741	1442
51843	1.8753	962
51842	1.4898	992

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.86	gold quality
left ovary	UBERON:0002119	99.85	gold quality
right ovary	UBERON:0002118	99.84	gold quality
embryo	UBERON:0000922	99.83	gold quality
ovary	UBERON:0000992	99.83	gold quality
mucosa of stomach	UBERON:0001199	99.83	gold quality
right uterine tube	UBERON:0001302	99.83	gold quality
calcaneal tendon	UBERON:0003701	99.83	gold quality
ganglionic eminence	UBERON:0004023	99.83	gold quality
thoracic mammary gland	UBERON:0005200	99.83	gold quality
gall bladder	UBERON:0002110	99.82	gold quality
corpus callosum	UBERON:0002336	99.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.82	gold quality
endometrium	UBERON:0001295	99.81	gold quality
adenohypophysis	UBERON:0002196	99.81	gold quality
body of uterus	UBERON:0009853	99.81	gold quality
islet of Langerhans	UBERON:0000006	99.80	gold quality
colonic epithelium	UBERON:0000397	99.80	gold quality
uterus	UBERON:0000995	99.80	gold quality
granulocyte	CL:0000094	99.79	gold quality
body of pancreas	UBERON:0001150	99.79	gold quality
lower esophagus mucosa	UBERON:0035834	99.79	gold quality
uterine cervix	UBERON:0000002	99.78	gold quality
pituitary gland	UBERON:0000007	99.78	gold quality
endocervix	UBERON:0000458	99.78	gold quality
pancreas	UBERON:0001264	99.78	gold quality
myometrium	UBERON:0001296	99.78	gold quality
right lung	UBERON:0002167	99.78	gold quality
prostate gland	UBERON:0002367	99.78	gold quality
omental fat pad	UBERON:0010414	99.78	gold quality

Single-cell (SCXA)

Detected in 43 experiment(s), a significant marker in 24.

Experiment	Marker?	Max mean expression
E-GEOD-139324	yes	5311.94
E-MTAB-6653	yes	4306.82
E-HCAD-36	yes	3948.24
E-MTAB-9467	yes	3040.47
E-MTAB-8559	yes	2815.93
E-MTAB-8894	yes	2581.18
E-HCAD-5	yes	2378.74
E-MTAB-8221	yes	2324.96
E-MTAB-6701	yes	2310.81
E-CURD-88	yes	2266.36
E-CURD-7	yes	1003.89
E-MTAB-8142	yes	119.15
E-MTAB-8410	yes	40.93
E-HCAD-1	yes	38.87
E-MTAB-6678	yes	35.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

14 targeting RPL9, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-3137	97.26	66.78	761
HSA-MIR-125B-2-3P	96.69	68.38	1210
HSA-MIR-6826-5P	93.80	67.42	514

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

• The authors propose that during rabies virus infection, viral phosphoprotein P binds to ribosomal protein L9 that translocates from the nucleus to the cytoplasm, inhibiting the initial stage of viral transcription. (PMID:26655239)
• High RPL9 expression is associated with colorectal carcinoma. (PMID:27633352)
• UNR could bind to the 3’UTR of PTEN and RPL9 in glioma cell lines, therefore promoting glioma cell migration and regulating the expression of RPL9. (PMID:30266104)
• Here we report an individual diagnosed with DBA carrying a variant in the 5’UTR of RPL9 (uL6). Additionally, we report two individuals from a family with multiple cancer incidences carrying a RPL9 missense variant (PMID:31799629)
• Investigating the folding mechanism of the N-terminal domain of ribosomal protein L9. (PMID:33576138)
• Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis. (PMID:34483448)
• RPL9 acts as an oncogene by shuttling miRNAs through exosomes in human hepatocellular carcinoma cells. (PMID:38639179)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl9	ENSDARG00000037350
rattus_norvegicus	AABR07026048.1	ENSRNOG00000031879
drosophila_melanogaster	RpL9	FBGN0015756
caenorhabditis_elegans		WBGENE00004420

Protein

Protein identifiers

Large ribosomal subunit protein uL6 — P32969 (reviewed: P32969)

Alternative names: 60S ribosomal protein L9

All UniProt accessions (6): A0A2R8Y5Y7, D6RAN4, P32969, H0Y9R4, H0Y9V9, Q53Z07

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.

Similarity. Belongs to the universal ribosomal protein uL6 family.

RefSeq proteins (2): NP_000652, NP_001020092 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000702	Ribosomal_uL6-like	Family
IPR002359	Ribosomal_uL6_CS2	Conserved_site
IPR020040	Ribosomal_uL6_a/b-dom	Domain
IPR036789	Ribosomal_uL6-like_a/b-dom_sf	Homologous_superfamily

Pfam: PF00347

UniProt features (12 total): strand 8, chain 1, modified residue 1, helix 1, sequence conflict 1

Structure

Experimental structures (PDB)

193 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-P32969-F1	94.11	0.93

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 (1): 121

Function

Pathways and Gene Ontology

Reactome pathways

16 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-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: 367 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, MODULE_151, GNF2_TPT1, GCM_NPM1, MORF_UBE2I, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GNF2_FBL, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS

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

GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), rRNA binding (GO:0019843), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-11 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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ribosome	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
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
cell-substrate junction	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
protein-containing complex	1

Protein interactions and networks

STRING

4813 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL9	RPS25	P25111	818
RPL9	RPL21	P46778	803
RPL9	RPL4	P36578	797
RPL9	RPS5	P46782	787
RPL9	RPL14	P50914	784
RPL9	RPL19	P14118	771
RPL9	RPL7	P18124	771
RPL9	RPS3	P23396	770
RPL9	RPS20	P17075	767
RPL9	ACADM	P11310	763
RPL9	RPL30	P04645	763
RPL9	RPL5	P46777	758
RPL9	RPL8	P25120	754
RPL9	RPL11	P25121	743
RPL9	RPS23	P39028	740

IntAct

280 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
RPL9	DHPS	psi-mi:“MI:0915”(physical association)	0.870
DHPS	RPL9	psi-mi:“MI:0915”(physical association)	0.870
RPL9	DHPS	psi-mi:“MI:0914”(association)	0.870
CEP76	RPL9	psi-mi:“MI:0915”(physical association)	0.830
RPL9	CEP76	psi-mi:“MI:0915”(physical association)	0.830
RPL9	VCP	psi-mi:“MI:0915”(physical association)	0.780
CCDC184	RPL9	psi-mi:“MI:0915”(physical association)	0.720
HMBOX1	RPL9	psi-mi:“MI:0915”(physical association)	0.720
RPL9	ZBTB8A	psi-mi:“MI:0915”(physical association)	0.720
RPL9	TIFA	psi-mi:“MI:0915”(physical association)	0.720
RPL9	PNMA2	psi-mi:“MI:0915”(physical association)	0.720
ZBTB8A	RPL9	psi-mi:“MI:0915”(physical association)	0.720
TIFA	RPL9	psi-mi:“MI:0915”(physical association)	0.720
PNMA2	RPL9	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (691): RPL9 (Affinity Capture-MS), RPL9 (Two-hybrid), RPL9 (Two-hybrid), VCP (Two-hybrid), ZBTB14 (Two-hybrid), CALCOCO2 (Two-hybrid), PNMA2 (Two-hybrid), MTUS2 (Two-hybrid), ZBTB7B (Two-hybrid), HOMEZ (Two-hybrid), KXD1 (Two-hybrid), HMBOX1 (Two-hybrid), CEP76 (Two-hybrid), TIFA (Two-hybrid), FAM9B (Two-hybrid)

ESM2 similar proteins: A5IHP9, A6KYI0, A7ZFZ7, A8EZK1, A8F4S6, B0B888, B0BCF3, B2RLX7, B3EUK8, B8HMR8, G1SWI6, O74905, P05738, P0CE01, P17077, P30707, P32969, P49209, P49210, P50882, P51401, P51410, Q09865, Q10232, Q11QC7, Q1CRV6, Q1D760, Q1MPQ0, Q22AX5, Q3KLI3, Q3SYR7, Q54XI5, Q5AEN2, Q5IFJ7, Q5L8C4, Q5R9Q7, Q5WZJ7, Q5X844, Q64NM3, Q7MTM8

Diamond homologs: A0B9V4, A2BMD5, A3DNC3, A4FWA5, A4XLR5, A5IM98, A5UL72, A5WCK5, A6UQ60, A6UWV4, A6VH01, A7Z0Q3, A8AC04, A9A9P8, B0K5Q8, B1LBM5, B2A4F4, B5ELZ4, B6YSN0, B7J482, B8D0D9, B8D5V4, B8DB23, B8GV43, B9K8A1, B9MKG6, C5A269, C5CC48, G1SWI6, O02376, O05637, O26127, O28370, O59433, O74905, P05738, P14030, P14135, P17077, P30707

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL9	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 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
SARS-CoV-2 modulates host translation machinery	5	15.6×	4e-04
Formation of a pool of free 40S subunits	8	12.4×	5e-05
Peptide chain elongation	7	12.3×	1e-04
Viral mRNA Translation	7	12.3×	1e-04
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	7	12.2×	1e-04
Selenocysteine synthesis	7	11.7×	1e-04
Eukaryotic Translation Termination	7	11.7×	1e-04
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	7	11.4×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
mRNA stabilization	5	18.7×	2e-03
cytoplasmic translation	9	17.0×	2e-06
translation	10	10.5×	1e-05
rRNA processing	6	8.7×	6e-03
RNA splicing	7	6.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	46
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

688 predictions. Top by Δscore:

Variant	Effect	Δscore
4:39454221:GGTAA:G	acceptor_gain	1.0000
4:39454222:GTAA:G	acceptor_gain	1.0000
4:39454223:TAA:T	acceptor_gain	1.0000
4:39454224:AA:A	acceptor_gain	1.0000
4:39454224:AACT:A	acceptor_loss	1.0000
4:39454225:AC:A	acceptor_loss	1.0000
4:39454226:C:CC	acceptor_gain	1.0000
4:39454226:CT:C	acceptor_loss	1.0000
4:39454528:CTTA:C	donor_loss	1.0000
4:39454529:TTAC:T	donor_loss	1.0000
4:39454530:TACC:T	donor_loss	1.0000
4:39454531:A:AC	donor_gain	1.0000
4:39454531:AC:A	donor_gain	1.0000
4:39454531:ACCT:A	donor_gain	1.0000
4:39454532:C:CA	donor_gain	1.0000
4:39454532:CC:C	donor_gain	1.0000
4:39454532:CCT:C	donor_gain	1.0000
4:39454532:CCTC:C	donor_gain	1.0000
4:39454532:CCTCT:C	donor_gain	1.0000
4:39454645:AGCCG:A	acceptor_gain	1.0000
4:39454646:GCCG:G	acceptor_gain	1.0000
4:39454647:CCG:C	acceptor_gain	1.0000
4:39454647:CCGC:C	acceptor_gain	1.0000
4:39454647:CCGCT:C	acceptor_gain	1.0000
4:39454648:CG:C	acceptor_gain	1.0000
4:39454648:CGCTA:C	acceptor_gain	1.0000
4:39454650:C:CA	acceptor_loss	1.0000
4:39454650:C:CC	acceptor_gain	1.0000
4:39454652:A:AC	acceptor_gain	1.0000
4:39454652:A:C	acceptor_gain	1.0000

AlphaMissense

1259 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:39454589:C:T	G178D	1.000
4:39454590:C:G	G178R	1.000
4:39454591:A:C	D177E	1.000
4:39454591:A:T	D177E	1.000
4:39454592:T:A	D177V	1.000
4:39454593:C:G	D177H	1.000
4:39454597:A:C	F175L	1.000
4:39454597:A:T	F175L	1.000
4:39454598:A:C	F175C	1.000
4:39454598:A:G	F175S	1.000
4:39454599:A:G	F175L	1.000
4:39454603:C:A	R173S	1.000
4:39454603:C:G	R173S	1.000
4:39454604:C:A	R173M	1.000
4:39454604:C:G	R173T	1.000
4:39454610:T:A	D171V	1.000
4:39454611:C:G	D171H	1.000
4:39454612:C:A	K170N	1.000
4:39454612:C:G	K170N	1.000
4:39456441:C:A	G119V	1.000
4:39456441:C:T	G119D	1.000
4:39456446:G:C	F117L	1.000
4:39456446:G:T	F117L	1.000
4:39456448:A:G	F117L	1.000
4:39456500:G:C	F99L	1.000
4:39456500:G:T	F99L	1.000
4:39456501:A:C	F99C	1.000
4:39456501:A:G	F99S	1.000
4:39456502:A:C	F99V	1.000
4:39456502:A:G	F99L	1.000

dbSNP variants (sampled 300 via entrez): RS1000123042 (4:39460427 A>G,T), RS1000173649 (4:39460587 A>G), RS1000334101 (4:39455710 C>T), RS1000669423 (4:39456838 A>G), RS1001021701 (4:39456707 T>A,C), RS1001058677 (4:39457117 T>A,C), RS1001112046 (4:39457330 A>AAG), RS1001670616 (4:39454853 A>C), RS1001966949 (4:39459625 G>C), RS1002114507 (4:39456009 G>A), RS10025155 (4:39455015 T>C), RS1002902444 (4:39459209 A>C,G), RS1004772202 (4:39459458 A>G), RS1004864084 (4:39459779 G>A), RS1005864202 (4:39458893 C>A,G,T)

Disease associations

OMIM: gene MIM:603686 | disease phenotypes: MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Moderate	Autosomal dominant

Mondo (1): Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (1): Diamond-Blackfan anemia (Orphanet:124)

HPO phenotypes

59 total (30 of 59 shown, HPO-id order):

HPO	Term
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
HP:0001631	Atrial septal defect

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007328_35	Alcohol consumption (drinks per week)	2.000000e-10

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), CHEMBL6066916 (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

50 potent at pChembl≥5 of 54 total, top 49 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
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
5.89	Kd	1273	nM	CHEMBL3752910
5.89	ED50	1273	nM	CHEMBL3752910
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
5.28	Kd	5231	nM	CHEMBL5653589
5.28	ED50	5231	nM	CHEMBL5653589
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

48 with measured affinity, of 209 total; 28 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
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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149276: Binding affinity to human RPL9 incubated for 45 mins by Kinobead based pull down assay	kd	1.2731	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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149276: Binding affinity to human RPL9 incubated for 45 mins by Kinobead based pull down assay	kd	5.2306	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	3
sodium arsenite	increases abundance, increases expression, decreases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression, affects cotreatment	3
Smoke	decreases expression, increases abundance	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
titanium dioxide	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
methylparaben	increases expression	1
ochratoxin A	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
beta-methylcholine	affects expression	1
azoxystrobin	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	affects expression	1
deguelin	increases expression	1
fenpyroximate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	increases expression	1
abrine	decreases expression	1
pyrachlostrobin	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
nabiximols	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	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)