RPL35A

Summary

RPL35A (ribosomal protein L35a, HGNC:10345) is a protein-coding gene on chromosome 3q29, encoding Large ribosomal subunit protein eL33 (P18077). 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 L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6165 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 5 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 10 total
• Phenotypes (HPO): 63
• 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_000996

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10345
Approved symbol	RPL35A
Name	ribosomal protein L35a
Location	3q29
Locus type	gene with protein product
Status	Approved
Aliases	L35A, eL33, GIG33
Ensembl gene	ENSG00000182899
Ensembl biotype	protein_coding
OMIM	180468
Entrez	6165

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 24 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000329092, ENST00000429437, ENST00000439255, ENST00000442341, ENST00000448864, ENST00000474640, ENST00000485439, ENST00000496582, ENST00000642148, ENST00000642387, ENST00000647248, ENST00000885489, ENST00000928221, ENST00000928222, ENST00000928223, ENST00000928224, ENST00000928225, ENST00000928226, ENST00000928227, ENST00000928228, ENST00000928229, ENST00000928230, ENST00000928231, ENST00000928232, ENST00000928233, ENST00000928234, ENST00000928235, ENST00000928236, ENST00000928237, ENST00000928238, ENST00000928239, ENST00000928240

RefSeq mRNA: 2 — MANE Select: NM_000996 NM_000996, NM_001316311

CCDS: CCDS33930

Canonical transcript exons

ENST00000647248 — 5 exons

Exon	Start	End
ENSE00001300616	197950190	197950221
ENSE00001823377	197955750	197956610
ENSE00003467852	197950936	197950978
ENSE00003604844	197951159	197951311
ENSE00003641894	197954003	197954147

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 313.9338 / max 3087.3273, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40783	305.8339	1823
40784	7.6418	1615
40785	0.2489	115
40787	0.2092	69

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	99.88	gold quality
left ovary	UBERON:0002119	99.86	gold quality
skin of hip	UBERON:0001554	99.85	gold quality
ovary	UBERON:0000992	99.83	gold quality
right ovary	UBERON:0002118	99.83	gold quality
ganglionic eminence	UBERON:0004023	99.83	gold quality
endocervix	UBERON:0000458	99.82	gold quality
cortical plate	UBERON:0005343	99.82	gold quality
endothelial cell	CL:0000115	99.81	gold quality
monocyte	CL:0000576	99.80	gold quality
leukocyte	CL:0000738	99.80	gold quality
mononuclear cell	CL:0000842	99.80	gold quality
right uterine tube	UBERON:0001302	99.80	gold quality
ventricular zone	UBERON:0003053	99.80	gold quality
body of uterus	UBERON:0009853	99.80	gold quality
embryo	UBERON:0000922	99.79	gold quality
mucosa of stomach	UBERON:0001199	99.79	gold quality
upper arm skin	UBERON:0004263	99.78	gold quality
tendon	UBERON:0000043	99.77	gold quality
body of pancreas	UBERON:0001150	99.77	gold quality
left uterine tube	UBERON:0001303	99.77	gold quality
skin of abdomen	UBERON:0001416	99.77	gold quality
mammary duct	UBERON:0001765	99.77	gold quality
upper leg skin	UBERON:0004262	99.77	gold quality
ectocervix	UBERON:0012249	99.77	gold quality
granulocyte	CL:0000094	99.76	gold quality
islet of Langerhans	UBERON:0000006	99.76	gold quality
pituitary gland	UBERON:0000007	99.76	gold quality
lymph node	UBERON:0000029	99.76	gold quality
vagina	UBERON:0000996	99.76	gold quality

Single-cell (SCXA)

Detected in 35 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-6308	yes	9720.49
E-CURD-122	yes	4682.10
E-HCAD-9	yes	3902.47
E-CURD-88	yes	70.42
E-MTAB-9221	yes	55.47
E-MTAB-6678	yes	35.74
E-MTAB-9067	yes	25.77
E-MTAB-10042	yes	15.70
E-CURD-112	yes	14.98
E-HCAD-35	yes	8.76
E-MTAB-9801	yes	5.95
E-MTAB-8207	no	6490.53
E-CURD-98	no	5570.81
E-MTAB-9435	no	4759.12
E-MTAB-9154	no	4476.13

Regulation

Is transcription factor: no

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 8)

• Inhibition of cell death by ribosomal protein L35a. (PMID:12175552)
• analysis of 2 Diamond-Blackfan anemia (DBA) patients with chromosome 3q deletions identified RPL35A as a potential DBA gene (PMID:18535205)
• Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A. (PMID:22045982)
• Data show 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion. (PMID:22262766)
• We identified 85 overlapping deletions, of which six included the RPL35A gene and all should be had Diamond-Blackfan anemia (DBA).we sequenced the remaining RNF168 gene and examined her fibroblast culture for a DNA double strand break repair deficiency. These results were normal, indicating that the immunodeficiency is unlikely to result from a RNF168 deficiency. (PMID:28432740)
• Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. (PMID:32241839)
• RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination. (PMID:38395908)
• RPL35A drives ovarian cancer progression by promoting the binding of YY1 to CTCF promoter. (PMID:38436544)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl35a	ENSDARG00000088030
mus_musculus	Rpl35a	ENSMUSG00000060636
drosophila_melanogaster	RpL35A	FBGN0037328
caenorhabditis_elegans		WBGENE00004447

Protein

Protein identifiers

Large ribosomal subunit protein eL33 — P18077 (reviewed: P18077)

Alternative names: 60S ribosomal protein L35a, Cell growth-inhibiting gene 33 protein

All UniProt accessions (4): C9K025, P18077, F8WB72, F8WBS5

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. Required for the proliferation and viability of hematopoietic cells.

Subunit / interactions. Component of the large ribosomal subunit.

Subcellular location. Cytoplasm.

Disease relevance. Diamond-Blackfan anemia 5 (DBA5) [MIM:612528] An autosomal dominant 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. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Knockdown of RPL35A in hematopoietic cell lines results in decreased cell proliferation, increased apoptosis, decreased biogenesis of mature 60S ribosomal subunit, and abnormal processing of large ribosomal subunit rRNA.

Similarity. Belongs to the eukaryotic ribosomal protein eL33 family.

RefSeq proteins (2): NP_000987, NP_001303240 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001780	Ribosomal_eL33	Family
IPR009000	Transl_B-barrel_sf	Homologous_superfamily
IPR018266	Ribosomal_eL33_CS	Conserved_site
IPR038661	Ribosomal_eL33_sf	Homologous_superfamily

Pfam: PF01247

UniProt features (7 total): modified residue 3, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

194 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-P18077-F1	95.78	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 (3): 8, 63, 63

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: 371 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, MODULE_151, GCM_NPM1, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION, YY1_Q6, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GCM_PSME1, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, WANG_LMO4_TARGETS_DN, YY1_02

GO Biological Process (4): cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), ribosomal large subunit biogenesis (GO:0042273)

GO Molecular Function (4): tRNA binding (GO:0000049), RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), synapse (GO:0045202), extracellular exosome (GO:0070062), ribosome (GO:0005840), 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 biogenesis	2
ribosome	2
translation	1
RNA processing	1
rRNA metabolic process	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
ribonucleoprotein complex biogenesis	1
RNA binding	1
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
cell junction	1
extracellular vesicle	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2945 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL35A	RPS24	P16632	977
RPL35A	RPS17	P08708	972
RPL35A	RPS26	P02383	955
RPL35A	RPS19	P39019	951
RPL35A	RPS10	P46783	926
RPL35A	RPL11	P25121	916
RPL35A	RPL5	P46777	907
RPL35A	RPL36A	P09896	886
RPL35A	RPL29	P47914	883
RPL35A	RPL19	P14118	881
RPL35A	RPS11	P04643	874
RPL35A	RPL36AL	Q969Q0	874
RPL35A	RPS14	P06366	827
RPL35A	RPL37A	P12751	818
RPL35A	RPL7A	P11518	811

IntAct

164 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
NCK1	NCK2	psi-mi:“MI:0914”(association)	0.730
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
PRKCA	RPL35A	psi-mi:“MI:0915”(physical association)	0.560
RPL35A	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
RPL35A	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	RPL35A	psi-mi:“MI:0915”(physical association)	0.560
LMO3	RPL35A	psi-mi:“MI:0915”(physical association)	0.560
SH3GL3	RPL35A	psi-mi:“MI:0915”(physical association)	0.550

BioGRID (505): RPL35A (Affinity Capture-MS), HNRNPUL2 (Co-fractionation), RNPS1 (Co-fractionation), RPL10A (Co-fractionation), RPL12 (Co-fractionation), RPL15 (Co-fractionation), RPL17 (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation), RPL35A (Co-fractionation)

ESM2 similar proteins: A0A1D8PHH4, A0LII6, A2BT86, A2BYN7, A3PF00, A6LLK8, A6Q1M5, A7I3T8, A8G711, A8LM43, A9BCK3, B2IK57, B5YG52, B7IHU1, B8ELG8, B8J3F7, C4XLW8, G1SF08, O55142, P02434, P04646, P05744, P0DJ22, P18077, P41056, P49180, P51422, P52762, P61272, P63199, P63200, Q06J32, Q1D779, Q28UX0, Q318N2, Q39Y11, Q4JB17, Q55BN7, Q56JY1, Q5R8K6

Diamond homologs: A0A1D8PHH4, G1SF08, O55142, O74099, P02434, P04646, P05744, P0DJ22, P18077, P20299, P41056, P49180, P51422, P61272, Q55BN7, Q56JY1, Q5R8K6, Q8TYY6, Q8TZV6, Q90YT3, Q9C912, Q9FZH0, Q9LMK0, Q9USG6, Q9USX4, Q9V1P2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL35A	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 179 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
Downstream signal transduction	6	18.9×	1e-04
FCERI mediated MAPK activation	6	17.2×	2e-04
Nuclear events stimulated by ALK signaling in cancer	5	13.5×	1e-03
Eukaryotic Translation Initiation	5	12.8×	1e-03
Cap-dependent Translation Initiation	5	12.8×	1e-03
SARS-CoV-1 modulates host translation machinery	5	12.8×	1e-03
Signaling by SCF-KIT	6	12.3×	4e-04
Beta-catenin independent WNT signaling	5	12.1×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	11	12.9×	1e-06
negative regulation of translation	10	12.4×	4e-06
rRNA processing	10	9.0×	7e-05
ribosomal small subunit biogenesis	6	8.7×	1e-02
translation	10	6.5×	1e-03
DNA damage response	12	4.1×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

610 predictions. Top by Δscore:

Variant	Effect	Δscore
3:197950930:TTTAA:T	acceptor_loss	1.0000
3:197950931:TTAA:T	acceptor_loss	1.0000
3:197950932:TAA:T	acceptor_loss	1.0000
3:197950933:A:AG	acceptor_gain	1.0000
3:197950933:AAG:A	acceptor_gain	1.0000
3:197950933:AAGGC:A	acceptor_loss	1.0000
3:197950934:A:G	acceptor_gain	1.0000
3:197950935:G:GA	acceptor_gain	1.0000
3:197950935:GGCCT:G	acceptor_gain	1.0000
3:197950976:A:T	donor_gain	1.0000
3:197950977:AGGTA:A	donor_loss	1.0000
3:197950978:GGT:G	donor_loss	1.0000
3:197951156:TAG:T	acceptor_loss	1.0000
3:197951157:A:AG	acceptor_gain	1.0000
3:197951157:A:G	acceptor_loss	1.0000
3:197951157:AG:A	acceptor_gain	1.0000
3:197951157:AGGCT:A	acceptor_gain	1.0000
3:197951158:G:GG	acceptor_gain	1.0000
3:197951158:GG:G	acceptor_gain	1.0000
3:197951158:GGC:G	acceptor_gain	1.0000
3:197951158:GGCT:G	acceptor_gain	1.0000
3:197951158:GGCTG:G	acceptor_gain	1.0000
3:197951279:C:T	donor_gain	1.0000
3:197951307:AAGAA:A	donor_gain	1.0000
3:197951308:AGAA:A	donor_gain	1.0000
3:197951309:G:GT	donor_gain	1.0000
3:197951309:GAA:G	donor_gain	1.0000
3:197951312:G:GG	donor_gain	1.0000
3:197953995:A:AG	acceptor_gain	1.0000
3:197953996:A:G	acceptor_gain	1.0000

AlphaMissense

701 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:197951288:C:G	C47W	1.000
3:197954052:G:A	G72R	1.000
3:197954052:G:C	G72R	1.000
3:197954053:G:A	G72E	1.000
3:197954053:G:T	G72V	1.000
3:197954074:G:A	G79E	1.000
3:197954074:G:T	G79V	1.000
3:197954083:G:T	G82V	1.000
3:197954100:T:C	F88L	1.000
3:197954102:C:A	F88L	1.000
3:197954102:C:G	F88L	1.000
3:197954131:G:A	G98E	1.000
3:197951230:T:A	L28H	0.999
3:197951268:T:C	F41L	0.999
3:197951270:C:A	F41L	0.999
3:197951270:C:G	F41L	0.999
3:197951277:G:C	G44R	0.999
3:197951278:G:T	G44V	0.999
3:197951282:G:C	K45N	0.999
3:197951282:G:T	K45N	0.999
3:197951286:T:C	C47R	0.999
3:197951287:G:A	C47Y	0.999
3:197951290:C:A	A48D	0.999
3:197954041:G:C	R68T	0.999
3:197954042:A:C	R68S	0.999
3:197954042:A:T	R68S	0.999
3:197954049:T:A	W71R	0.999
3:197954049:T:C	W71R	0.999
3:197954073:G:A	G79R	0.999
3:197954073:G:C	G79R	0.999

dbSNP variants (sampled 300 via entrez): RS1000603970 (3:197951092 G>A,C,T), RS1000619386 (3:197950342 T>G), RS1000693038 (3:197950175 C>A,G,T), RS1001037986 (3:197951418 G>T), RS1001681048 (3:197956465 G>A), RS1001767946 (3:197950594 G>A,T), RS1001910071 (3:197950444 G>A), RS1001938504 (3:197956370 T>C), RS10022 (3:197955787 C>A,T), RS1002245117 (3:197950671 C>G,T), RS1002362823 (3:197956625 T>C,G), RS1002921301 (3:197953064 G>A,T), RS1003043449 (3:197954252 T>A,C), RS1003586350 (3:197949484 T>G), RS1003639013 (3:197955452 C>G)

Disease associations

OMIM: gene MIM:180468 | disease phenotypes: MIM:612528, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 5	Strong	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia 5 (MONDO:0012925), Diamond-Blackfan anemia (MONDO:0015253)

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

HPO phenotypes

63 total (30 of 63 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:0001263	Global developmental delay
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001627	Abnormal heart morphology

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_2116	Metabolite levels	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010381	phosphatidylcholine 36:3 measurement

MeSH disease descriptors (2)

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
C567280	Diamond-Blackfan Anemia 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6066950 (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
7.78	Kd	16.71	nM	CHEMBL5653589
7.78	ED50	16.71	nM	CHEMBL5653589
7.41	Kd	38.82	nM	CHEMBL3752910
7.41	ED50	38.82	nM	CHEMBL3752910
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

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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149265: Binding affinity to human RPL35A incubated for 45 mins by Kinobead based pull down assay	kd	0.0167	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149265: Binding affinity to human RPL35A incubated for 45 mins by Kinobead based pull down assay	kd	0.0388	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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects expression	4
sodium arsenite	decreases expression, increases activity, increases expression	4
Lead	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
cobaltous chloride	increases expression	1
3,4,3’,4’-tetrachlorobiphenyl	affects expression	1
CGP 52608	increases reaction, affects binding	1
chloropicrin	decreases 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
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Doxorubicin	affects expression	1
Estradiol	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Methotrexate	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression, increases abundance	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)