RPL31

Summary

RPL31 (ribosomal protein L31, HGNC:10334) is a protein-coding gene on chromosome 2q11.2, encoding Large ribosomal subunit protein eL31 (P62899). 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 L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. 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 distinct isoforms have been found for this gene.

Source: NCBI Gene 6160 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 113 total — 1 likely-pathogenic
• 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_000993

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10334
Approved symbol	RPL31
Name	ribosomal protein L31
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	L31, eL31
Ensembl gene	ENSG00000071082
Ensembl biotype	protein_coding
OMIM	617415
Entrez	6160

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 21 protein_coding, 1 nonsense_mediated_decay

ENST00000264258, ENST00000409000, ENST00000409028, ENST00000409038, ENST00000409320, ENST00000409650, ENST00000409711, ENST00000409733, ENST00000419276, ENST00000441435, ENST00000456292, ENST00000870891, ENST00000870892, ENST00000938458, ENST00000938459, ENST00000938460, ENST00000938461, ENST00000938462, ENST00000938463, ENST00000938464, ENST00000938465, ENST00000938466

RefSeq mRNA: 3 — MANE Select: NM_000993 NM_000993, NM_001098577, NM_001099693

CCDS: CCDS2049, CCDS46373, CCDS46374

Canonical transcript exons

ENST00000264258 — 5 exons

Exon	Start	End
ENSE00000771963	101004158	101004283
ENSE00001383880	101006350	101007267
ENSE00001665150	101002702	101002808
ENSE00001876303	101002289	101002315
ENSE00003784733	101005959	101006071

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 247.8928 / max 3510.2488, expressed in 1824 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21605	245.9357	1824
21606	1.8869	846
202323	0.0702	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of hip	UBERON:0001554	99.98	gold quality
upper leg skin	UBERON:0004262	99.98	gold quality
caput epididymis	UBERON:0004358	99.97	gold quality
trabecular bone tissue	UBERON:0002483	99.96	gold quality
cauda epididymis	UBERON:0004360	99.96	gold quality
mammalian vulva	UBERON:0000997	99.95	gold quality
germinal epithelium of ovary	UBERON:0001304	99.95	gold quality
mammary duct	UBERON:0001765	99.95	gold quality
left ovary	UBERON:0002119	99.95	gold quality
corpus epididymis	UBERON:0004359	99.95	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.95	gold quality
tendon of biceps brachii	UBERON:0008188	99.95	gold quality
tendon	UBERON:0000043	99.94	gold quality
penis	UBERON:0000989	99.94	gold quality
ovary	UBERON:0000992	99.94	gold quality
right ovary	UBERON:0002118	99.94	gold quality
pericardium	UBERON:0002407	99.94	gold quality
calcaneal tendon	UBERON:0003701	99.94	gold quality
pituitary gland	UBERON:0000007	99.93	gold quality
urethra	UBERON:0000057	99.93	gold quality
endocervix	UBERON:0000458	99.93	gold quality
superficial temporal artery	UBERON:0001614	99.93	gold quality
synovial joint	UBERON:0002217	99.93	gold quality
choroid plexus epithelium	UBERON:0003911	99.93	gold quality
ganglionic eminence	UBERON:0004023	99.93	gold quality
vena cava	UBERON:0004087	99.93	gold quality
embryo	UBERON:0000922	99.92	gold quality
epithelium of nasopharynx	UBERON:0001951	99.92	gold quality
cortical plate	UBERON:0005343	99.92	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.92	gold quality

Single-cell (SCXA)

Detected in 47 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	4759.35
E-MTAB-8142	yes	4505.98
E-MTAB-10283	yes	4016.01
E-HCAD-36	yes	3827.06
E-HCAD-25	yes	1230.29
E-CURD-122	yes	78.90
E-CURD-88	yes	58.80
E-MTAB-9221	yes	53.47
E-MTAB-8410	yes	50.80
E-HCAD-9	yes	30.13
E-MTAB-10042	yes	15.48
E-MTAB-7316	yes	14.98
E-CURD-112	yes	10.68
E-HCAD-35	yes	8.41
E-MTAB-9801	yes	6.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting RPL31, 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-5696	99.98	72.36	4487
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-6837-3P	98.42	66.71	1149
HSA-MIR-3689A-5P	98.35	70.12	1049
HSA-MIR-3689B-5P	98.35	70.12	1049
HSA-MIR-3689E	98.35	70.12	1049
HSA-MIR-3689F	98.35	70.08	1052
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-4771	97.43	67.69	596
HSA-MIR-214-5P	97.34	66.50	617
HSA-MIR-3200-5P	97.34	65.97	826

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 3)

• gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene. (PMID:25042156)
• protein levels of the tumor suppressor p53 and its targets, p21 and MDM2, were increased in LNCaP and bicalutamide-resistant LNCaP cells treated with RPL31 siRNA. (PMID:25285958)
• Silencing eL31 suppresses the progression of colorectal cancer via targeting DEPDC1. (PMID:36309731)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl31	ENSDARG00000053365
rattus_norvegicus	Rpl31	ENSRNOG00000013508
drosophila_melanogaster	RpL31	FBGN0285949
caenorhabditis_elegans	rpl-31	WBGENE00004445

Protein

Protein identifiers

Large ribosomal subunit protein eL31 — P62899 (reviewed: P62899)

Alternative names: 60S ribosomal protein L31

All UniProt accessions (6): P62899, B7Z4C8, B7Z4E3, B8ZZK4, C9JU56, H7C2W9

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 eukaryotic ribosomal protein eL31 family.

Isoforms (3)

UniProt ID	Names	Canonical?
P62899-1	1	yes
P62899-2	2
P62899-3	3

RefSeq proteins (3): NP_000984, NP_001092047, NP_001093163 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000054	Ribosomal_eL31	Family
IPR020052	Ribosomal_eL31_CS	Conserved_site
IPR023621	Ribosomal_eL31_dom_sf	Homologous_superfamily

Pfam: PF01198

UniProt features (10 total): modified residue 7, splice variant 2, chain 1

Structure

Experimental structures (PDB)

186 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-P62899-F1	88.62	0.73

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 (7): 1, 15, 55, 70, 75, 75, 98

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: 441 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, RRAGTTGT_UNKNOWN, YAGI_AML_WITH_INV_16_TRANSLOCATION, MODULE_151, GNF2_TPT1, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GCM_NPM1, MORF_UBE2I, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, HAHTOLA_MYCOSIS_FUNGOIDES_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT

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): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), synapse (GO:0045202), extracellular exosome (GO:0070062), ribosome (GO:0005840), large ribosomal subunit (GO:0015934), 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	4
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
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
cell junction	1
extracellular vesicle	1
intracellular membraneless organelle	1
ribosomal subunit	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

323 interactions, top by confidence:

A	B	Type	Score
IFIT2	IFIT3	psi-mi:“MI:0914”(association)	0.780
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
N	RPL31	psi-mi:“MI:0915”(physical association)	0.700
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
CHAT	RPL31	psi-mi:“MI:0915”(physical association)	0.560
RPL31	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
RPL31	GSN	psi-mi:“MI:0915”(physical association)	0.560
RPL31		psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	RPL31	psi-mi:“MI:0915”(physical association)	0.560
HTT	RPL31	psi-mi:“MI:0915”(physical association)	0.560
N	NOP56	psi-mi:“MI:0914”(association)	0.530

BioGRID (970): RPL31 (Affinity Capture-MS), RPL31 (Affinity Capture-MS), RPL31 (Two-hybrid), DDX27 (Co-fractionation), EIF6 (Co-fractionation), LYAR (Co-fractionation), NIFK (Co-fractionation), PES1 (Co-fractionation), RPL10A (Co-fractionation), RPL12 (Co-fractionation), RPL13 (Co-fractionation), RPL13A (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL21 (Co-fractionation)

ESM2 similar proteins: A0A1D8PHF5, A3CWZ5, A7I9I7, B8GEU5, G1SHG0, J9PAS6, O18602, O61749, O65071, P09132, P0C2H8, P0C2H9, P0CX31, P0CX32, P45841, P46290, P51420, P62899, P62900, P62901, P62902, Q1KSC7, Q22DH9, Q2FS98, Q3ZBG7, Q54XB5, Q56JX3, Q5RBR1, Q5RBR9, Q6FWF4, Q6NUH0, Q757D7, Q75K27, Q7KF90, Q8LC83, Q8PYQ4, Q8SSC8, Q8TIN3, Q90YT7, Q9D7A6

Diamond homologs: A0A1D8PHF5, A2STI8, A4G0C8, A6UR55, A6VI49, A7I9I7, A9A8N0, B8GEU5, C5A7H3, G1SHG0, O18602, O27649, O28213, O65071, P0C2H8, P0C2H9, P45841, P46290, P51420, P54009, P58189, P62899, P62900, P62901, P62902, Q1KSC7, Q22DH9, Q2FS98, Q54XB5, Q56JX3, Q5RBR9, Q6FWF4, Q6M155, Q6NUH0, Q757D7, Q7KF90, Q8TUY4, Q8U3S7, Q90YT7, Q9GN74

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL31	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 191 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
SRP-dependent cotranslational protein targeting to membrane	18	12.8×	2e-12
GTP hydrolysis and joining of the 60S ribosomal subunit	17	12.1×	1e-11
Eukaryotic Translation Termination	14	11.9×	1e-09
Formation of a pool of free 40S subunits	15	11.9×	2e-10
Peptide chain elongation	13	11.7×	4e-09
Viral mRNA Translation	13	11.7×	4e-09
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	14	11.7×	1e-09
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	13	11.6×	4e-09

GO biological processes:

GO term	Partners	Fold	FDR
stress granule assembly	6	20.9×	7e-05
cytoplasmic translation	16	17.1×	1e-12
negative regulation of innate immune response	5	14.8×	2e-03
translational initiation	7	14.5×	9e-05
ribosomal large subunit biogenesis	5	12.8×	3e-03
negative regulation of translation	11	12.5×	4e-07
positive regulation of interferon-beta production	5	11.3×	5e-03
mitophagy	6	11.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	59
Likely benign	30
Benign	12

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4531762	NM_000993.5(RPL31):c.*23_*24del	Likely pathogenic

SpliceAI

1308 predictions. Top by Δscore:

Variant	Effect	Δscore
2:101002311:GCAGA:G	donor_gain	1.0000
2:101002314:GA:G	donor_gain	1.0000
2:101002697:TTTA:T	acceptor_loss	1.0000
2:101002698:TTAG:T	acceptor_loss	1.0000
2:101002699:TA:T	acceptor_loss	1.0000
2:101002700:AG:A	acceptor_loss	1.0000
2:101002700:AGAT:A	acceptor_gain	1.0000
2:101002700:AGATG:A	acceptor_gain	1.0000
2:101002701:GAT:G	acceptor_gain	1.0000
2:101002701:GATG:G	acceptor_gain	1.0000
2:101002701:GATGG:G	acceptor_gain	1.0000
2:101002804:GGAGT:G	donor_gain	1.0000
2:101002805:GAGT:G	donor_gain	1.0000
2:101002805:GAGTG:G	donor_gain	1.0000
2:101002807:GT:G	donor_gain	1.0000
2:101002807:GTGTG:G	donor_loss	1.0000
2:101002809:G:C	donor_loss	1.0000
2:101002809:G:GG	donor_gain	1.0000
2:101002811:GAGTA:G	donor_loss	1.0000
2:101004153:CGTA:C	acceptor_loss	1.0000
2:101004154:GTA:G	acceptor_loss	1.0000
2:101004155:TA:T	acceptor_loss	1.0000
2:101004156:A:AG	acceptor_gain	1.0000
2:101004156:AG:A	acceptor_gain	1.0000
2:101004156:AGG:A	acceptor_gain	1.0000
2:101004156:AGGG:A	acceptor_gain	1.0000
2:101004157:G:GA	acceptor_gain	1.0000
2:101004157:GG:G	acceptor_gain	1.0000
2:101004157:GGG:G	acceptor_gain	1.0000
2:101004157:GGGG:G	acceptor_gain	1.0000

AlphaMissense

809 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:101004204:T:C	F52L	1.000
2:101004206:T:A	F52L	1.000
2:101004206:T:G	F52L	1.000
2:101004208:C:A	A53D	1.000
2:101004253:T:A	L68H	1.000
2:101004265:T:A	V72D	1.000
2:101004267:T:A	W73R	1.000
2:101004267:T:C	W73R	1.000
2:101004276:G:A	G76R	1.000
2:101004276:G:C	G76R	1.000
2:101004277:G:A	G76E	1.000
2:101004277:G:T	G76V	1.000
2:101005994:G:C	R90T	1.000
2:101005994:G:T	R90I	1.000
2:101005995:A:C	R90S	1.000
2:101005995:A:T	R90S	1.000
2:101002769:G:C	R23P	0.999
2:101004162:T:C	F38L	0.999
2:101004164:C:A	F38L	0.999
2:101004164:C:G	F38L	0.999
2:101004167:G:C	K39N	0.999
2:101004167:G:T	K39N	0.999
2:101004171:C:A	R41S	0.999
2:101004184:C:A	A45E	0.999
2:101004205:T:C	F52S	0.999
2:101004221:G:A	M57I	0.999
2:101004221:G:C	M57I	0.999
2:101004221:G:T	M57I	0.999
2:101004237:C:A	R63S	0.999
2:101004238:G:C	R63P	0.999

dbSNP variants (sampled 300 via entrez): RS1000073466 (2:101002603 C>T), RS1000242396 (2:101005949 T>C), RS1000395132 (2:101011366 C>T), RS1000405701 (2:101017268 T>C), RS1000408316 (2:101005644 A>G), RS1000494114 (2:101017505 C>T), RS1000833193 (2:101009415 A>C), RS1000861630 (2:101015330 A>G), RS1000893819 (2:101009685 A>G), RS1001069323 (2:101015029 A>G), RS1001125783 (2:101001256 A>G), RS1001344887 (2:101011278 C>G,T), RS1001541847 (2:101015266 T>C), RS1001564777 (2:101011046 A>G), RS1001671078 (2:101006329 T>G)

Disease associations

OMIM: gene MIM:617415 | 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
GCST90013407_115	Liver enzyme levels (gamma-glutamyl transferase)	3.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase 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), CHEMBL6067546 (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 54 total, top 47 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.35	Kd	4.489	nM	CHEMBL5653589
8.35	ED50	4.489	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 209 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	2149262: Binding affinity to human RPL31 incubated for 45 mins by Kinobead based pull down assay	kd	0.0045	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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, affects expression	8
bisphenol A	decreases expression	4
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression	3
methylmercuric chloride	decreases expression	2
deoxynivalenol	decreases expression, increases expression	2
entinostat	affects cotreatment, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	increases abundance, increases palmitoylation, increases expression, decreases reaction	2
Particulate Matter	decreases expression, increases abundance	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	affects splicing	1
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
decabromobiphenyl ether	decreases expression	1
terbufos	decreases methylation	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
sodium bichromate	increases expression	1
3,3’-diindolylmethane	decreases reaction, increases expression	1
tetrabromobisphenol A	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
cyclic 3’,5’-uridine monophosphate	affects binding	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)