RPL23

Summary

RPL23 (ribosomal protein L23, HGNC:10316) is a protein-coding gene on chromosome 17q12, encoding Large ribosomal subunit protein uL14 (P62829). 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 L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 9349 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 49 total — 1 likely-pathogenic
• Phenotypes (HPO): 54
• 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_000978

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10316
Approved symbol	RPL23
Name	ribosomal protein L23
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	rpL17, L23, uL14
Ensembl gene	ENSG00000125691
Ensembl biotype	protein_coding
OMIM	603662
Entrez	9349

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000245857, ENST00000378096, ENST00000394332, ENST00000394333, ENST00000470646, ENST00000479035, ENST00000577407, ENST00000577760, ENST00000584056, ENST00000584583, ENST00000584912, ENST00000716859, ENST00000716860, ENST00000716861, ENST00000716862, ENST00000716863, ENST00000716864, ENST00000716865, ENST00000716866, ENST00000929683

RefSeq mRNA: 1 — MANE Select: NM_000978 NM_000978

CCDS: CCDS11330

Canonical transcript exons

ENST00000479035 — 5 exons

Exon	Start	End
ENSE00001315989	38853698	38853721
ENSE00001900622	38847860	38850214
ENSE00003577730	38852604	38852732
ENSE00003582448	38853022	38853105
ENSE00004030915	38850362	38850475

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 99.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2681 / max 162.8225, expressed in 1705 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165567	673.5268	1828
165566	5.4986	1597
165563	1.2618	660
165564	0.9357	575
165565	0.5721	331

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	99.92	gold quality
left ovary	UBERON:0002119	99.91	gold quality
right ovary	UBERON:0002118	99.90	gold quality
ventricular zone	UBERON:0003053	99.89	gold quality
cortical plate	UBERON:0005343	99.89	gold quality
monocyte	CL:0000576	99.86	gold quality
right uterine tube	UBERON:0001302	99.86	gold quality
endocervix	UBERON:0000458	99.85	gold quality
right lung	UBERON:0002167	99.85	gold quality
body of uterus	UBERON:0009853	99.85	gold quality
colonic epithelium	UBERON:0000397	99.84	gold quality
left uterine tube	UBERON:0001303	99.84	gold quality
left adrenal gland cortex	UBERON:0035825	99.84	gold quality
right adrenal gland cortex	UBERON:0035827	99.84	gold quality
right lobe of thyroid gland	UBERON:0001119	99.83	gold quality
left lobe of thyroid gland	UBERON:0001120	99.83	gold quality
right adrenal gland	UBERON:0001233	99.83	gold quality
left adrenal gland	UBERON:0001234	99.83	gold quality
skin of abdomen	UBERON:0001416	99.83	gold quality
metanephros cortex	UBERON:0010533	99.83	gold quality
ectocervix	UBERON:0012249	99.83	gold quality
granulocyte	CL:0000094	99.82	gold quality
mucosa of stomach	UBERON:0001199	99.82	gold quality
rectum	UBERON:0001052	99.81	gold quality
left coronary artery	UBERON:0001626	99.81	gold quality
calcaneal tendon	UBERON:0003701	99.81	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.81	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.81	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.81	gold quality
stromal cell of endometrium	CL:0002255	99.80	gold quality

Single-cell (SCXA)

Detected in 29 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	173.24
E-CURD-88	yes	56.22
E-CURD-46	yes	53.09
E-GEOD-125970	yes	48.26
E-CURD-112	yes	31.68
E-HCAD-31	yes	25.48
E-HCAD-9	yes	23.39
E-MTAB-9221	yes	17.51
E-MTAB-10042	yes	14.80
E-CURD-122	yes	11.09
E-MTAB-9801	yes	5.98
E-MTAB-10596	no	5809.52
E-MTAB-8559	no	4271.59
E-MTAB-10283	no	4087.09
E-MTAB-11121	no	3882.20

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 10)

• either RPS13 or RPL23 can promote MDR in gastric cancer cells by suppressing drug-induced apoptosis, and RPL23 may also promote MDR in gastric cancer cells through regulation of glutathione S-transferase-mediated drug-detoxifying system (PMID:15149863)
• the MDM2-L5-L11-L23 complex functions to inhibit MDM2-mediated p53 ubiquitination and thus activates p53 (PMID:15308643)
• These results reveal that ribosomal protein L23 is another regulator of the p53-MDM2 feedback regulation involved in cell growth. (PMID:15314173)
• Data show that, when overexpressed, ribosomal protein L23 inhibits HDM2-induced p53 polyubiquitination and degradation and causes a p53-dependent cell cycle arrest. (PMID:15314174)
• The ribosomal protein L23 is a negative regulator of Miz1-dependent transactivation. (PMID:19160485)
• Increased RPL23 expression is found in patients with higher-risk myelodysplastic syndrome (MDS) than in patients with lower-risk disease. (PMID:22580751)
• L23 is a novel oncogene in the squamous cell carcinoma of the head and neck (PMID:23160375)
• the data presented here demonstrate that co-transduction of RPL23 enhances the therapeutic efficacy of adenoviral-mediated p53 gene transfer in models of human gastric cancer and support the use of this strategy for cancer treatment. (PMID:23933826)
• the data presented here suggest that CEA promoter-targeted exogenous RPL23 expression could be of therapeutic value against human colorectal carcinoma that retains wt-p53. (PMID:26044651)
• Because RPL23 is encoded by a target gene of c-Myc, the RPL23/Miz-1/c-Myc regulatory circuit provides a feedback loop that links efficient RPL23 expression with c-Myc’s function to suppress Miz-1-induced Cdk inhibitors and thereby leads to apoptotic resistance in higher-risk myelodysplastic syndrome patients (PMID:28539603)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl23	ENSDARG00000053457
mus_musculus	Rpl23	ENSMUSG00000071415
rattus_norvegicus	LOC134480573	ENSRNOG00000004107
drosophila_melanogaster	RpL23	FBGN0010078
caenorhabditis_elegans		WBGENE00004435

Protein

Protein identifiers

Large ribosomal subunit protein uL14 — P62829 (reviewed: P62829)

Alternative names: 60S ribosomal protein L17, 60S ribosomal protein L23

All UniProt accessions (6): B9ZVP7, C9JD32, P62829, J3KT29, J3KTJ3, J3QQT9

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 uL14 family.

RefSeq proteins (1): NP_000969* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000218	Ribosomal_uL14	Family
IPR019972	Ribosomal_uL14_CS	Conserved_site
IPR036853	Ribosomal_uL14_sf	Homologous_superfamily

Pfam: PF00238

UniProt features (4 total): modified residue 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

190 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-P62829-F1	92.80	0.88

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 (2): 17, 38

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: 436 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GGGNRMNNYCAT_UNKNOWN, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, MODULE_151, GNF2_TPT1, GCM_NPM1, MORF_UBE2I, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION

GO Biological Process (15): negative regulation of transcription by RNA polymerase II (GO:0000122), cytoplasmic translation (GO:0002181), translation (GO:0006412), ribosomal protein import into nucleus (GO:0006610), positive regulation of cell population proliferation (GO:0008284), protein-DNA complex disassembly (GO:0032986), protein stabilization (GO:0050821), G1 to G0 transition (GO:0070314), positive regulation of signal transduction by p53 class mediator (GO:1901798), regulation of G1 to G0 transition (GO:1903450), negative regulation of ubiquitin-dependent protein catabolic process (GO:2000059), RNA processing (GO:0006396), positive regulation of gene expression (GO:0010628), cellular response to actinomycin D (GO:0072717), negative regulation of ubiquitin protein ligase activity (GO:1904667)

GO Molecular Function (7): transcription coactivator binding (GO:0001223), RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), ubiquitin protein ligase binding (GO:0031625), large ribosomal subunit rRNA binding (GO:0070180), ubiquitin ligase inhibitor activity (GO:1990948), protein binding (GO:0005515)

GO Cellular Component (14): nucleoplasm (GO:0005654), nucleolus (GO:0005730), 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), protein-containing complex (GO:0032991), synapse (GO:0045202), extracellular exosome (GO:0070062), 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
gene expression	2
ribosome	2
nuclear lumen	2
intracellular membraneless organelle	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
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
protein import into nucleus	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
protein-containing complex disassembly	1
protein-DNA complex organization	1
regulation of protein stability	1
cell cycle process	1
signal transduction by p53 class mediator	1
regulation of signal transduction by p53 class mediator	1
positive regulation of intracellular signal transduction	1
regulation of cell cycle process	1
G1 to G0 transition	1
ubiquitin-dependent protein catabolic process	1
negative regulation of protein catabolic process	1
regulation of ubiquitin-dependent protein catabolic process	1
RNA biosynthetic process	1
primary metabolic process	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
cellular response to antibiotic	1
response to actinomycin D	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

421 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
BCCIP	RPL23	psi-mi:“MI:0915”(physical association)	0.830
RPL23	BCCIP	psi-mi:“MI:0915”(physical association)	0.830
ARL3	UNC119B	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
DCC	NTN1	psi-mi:“MI:0914”(association)	0.700
TUBB	PLD2	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
RPL23	MDM2	psi-mi:“MI:0915”(physical association)	0.570
RPL5	RPL23	psi-mi:“MI:0915”(physical association)	0.560
RPL23	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
ANTXR1	POTEF	psi-mi:“MI:0914”(association)	0.530
CD79A	METTL15	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
LRP1	NME4	psi-mi:“MI:0914”(association)	0.530
CDH13	INSIG1	psi-mi:“MI:0914”(association)	0.530
ASGR2	MT-CO1	psi-mi:“MI:0914”(association)	0.530
EIPR1	LDHC	psi-mi:“MI:0914”(association)	0.530

BioGRID (882): RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-Western), BCCIP (Two-hybrid), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), RPL23 (Affinity Capture-MS)

ESM2 similar proteins: A0RM16, A1W1V5, A4IJL3, A5D5E6, A6Q1I3, A6QCQ3, A6U882, A7H107, A7H651, A7HWT4, A7HZL1, A7Z0R4, A7ZG07, A8ESU8, A8F9B1, A8FP16, B1HMV6, B1YGX6, B2UV77, B5Z8W2, B6JNF2, B7GJ93, B8F760, B9KEE5, B9L6M8, C3MB02, C5D3U3, G1T6D1, O50633, P04969, P56047, P62829, P62830, P62831, P62832, Q17ZD3, Q1CRU6, Q2RQY3, Q2W2L2, Q30TV9

Diamond homologs: A0A1D8PPT5, A0B9W0, A0RVY3, A1RRV9, A1RXG2, A2BMC9, A2SPL2, A3CT07, A3DNB7, A3MX34, A4FPL5, A4FWB1, A4WLG6, A4YCX6, A5FRY5, A5UL78, A6UQ54, A6UWU8, A6VGZ5, A7I5P9, A8ACD2, A8M8T7, A9A5I5, A9A9Q4, B0R666, B1GZ93, B1L776, B1XJS9, B3EP51, B3QR72, B7K238, B7KHZ7, B8HMR4, B9KZX7, B9LSR7, G1T6D1, O24787, O26121, O28364, O59427

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL23	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 236 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
RIP-mediated NFkB activation via ZBP1	6	26.5×	2e-05
TRAF6 mediated NF-kB activation	6	18.0×	9e-05
TNFR1-induced NF-kappa-B signaling pathway	7	15.5×	7e-05
TNF signaling	5	13.9×	8e-04
TAK1-dependent IKK and NF-kappa-B activation	6	11.9×	4e-04
Fc epsilon receptor (FCERI) signaling	5	8.9×	4e-03
Interleukin-1 family signaling	5	8.9×	4e-03
Toll Like Receptor 3 (TLR3) Cascade	7	8.9×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
non-canonical NF-kappaB signal transduction	7	30.4×	2e-06
amyloid fibril formation	5	15.5×	2e-03
canonical NF-kappaB signal transduction	7	13.2×	3e-04
mRNA stabilization	7	13.2×	3e-04
tumor necrosis factor-mediated signaling pathway	7	11.9×	5e-04
intrinsic apoptotic signaling pathway	6	11.1×	2e-03
cytoplasmic translation	11	10.5×	6e-06
obsolete positive regulation of NF-kappaB transcription factor activity	7	7.4×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	22
Likely benign	16
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

892 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:38850180:A:C	C125W	1.000
17:38850199:C:T	G119E	1.000
17:38850200:C:G	G119R	1.000
17:38850200:C:T	G119R	1.000
17:38850214:C:A	G114V	1.000
17:38850362:C:G	G114R	1.000
17:38850394:C:T	G103E	1.000
17:38850395:C:G	G103R	1.000
17:38850395:C:T	G103R	1.000
17:38850399:A:C	N101K	1.000
17:38850399:A:T	N101K	1.000
17:38852628:C:G	G68R	1.000
17:38852636:A:T	V65D	1.000
17:38852732:C:T	G33E	1.000
17:38853030:T:A	D30V	1.000
17:38853031:C:G	D30H	1.000
17:38853035:A:C	C28W	1.000
17:38853036:C:T	C28Y	1.000
17:38853037:A:G	C28R	1.000
17:38850148:G:T	A136D	0.999
17:38850157:G:T	A133E	0.999
17:38850170:A:G	W129R	0.999
17:38850170:A:T	W129R	0.999
17:38850181:C:T	C125Y	0.999
17:38850182:A:G	C125R	0.999
17:38850185:C:T	E124K	0.999
17:38850193:A:T	V121E	0.999
17:38850205:A:T	I117N	0.999
17:38850214:C:T	G114D	0.999
17:38850362:C:A	G114C	0.999

dbSNP variants (sampled 300 via entrez): RS1000125424 (17:38854507 G>C), RS1000500603 (17:38854655 G>C,T), RS1001082164 (17:38855351 C>G,T), RS1001492971 (17:38855641 G>C), RS1001954447 (17:38851486 T>C), RS1001985685 (17:38851875 G>A,C), RS1002800004 (17:38851562 C>CA), RS1003108377 (17:38847552 G>GC), RS1003884779 (17:38851542 T>C), RS1003941809 (17:38851051 A>C), RS1004377081 (17:38850726 A>G), RS1004881934 (17:38852736 C>A), RS1004963868 (17:38852461 T>A,C), RS1005967110 (17:38853540 T>C), RS1006128134 (17:38848533 G>A,C)

Disease associations

OMIM: gene MIM:603662 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (5): pancytopenia (MONDO:0001529), macrocytic anemia (MONDO:0002281), fetal growth restriction (MONDO:0005030), autism (MONDO:0005260), attention deficit-hyperactivity disorder (MONDO:0007743)

Orphanet (0):

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000162	Glossoptosis
HP:0000175	Cleft palate
HP:0000201	Pierre-Robin sequence
HP:0000218	High palate
HP:0000272	Malar flattening
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000325	Triangular face
HP:0000331	Short chin
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000413	Atresia of the external auditory canal
HP:0000717	Autism
HP:0000767	Pectus excavatum
HP:0001508	Failure to thrive
HP:0001864	Clinodactyly of the 5th toe
HP:0001873	Thrombocytopenia
HP:0001875	Decreased total neutrophil count
HP:0001876	Pancytopenia
HP:0001882	Decreased total leukocyte count
HP:0001903	Anemia
HP:0001909	Leukemia
HP:0001943	Hypoglycemia
HP:0001945	Fever
HP:0001972	Macrocytic anemia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009391_2139	Metabolite levels	2.000000e-06
GCST90020028_1635	Hip circumference adjusted for BMI	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010384	phosphatidylcholine 38:2 measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D000748	Anemia, Macrocytic	C15.378.050.252
D001321	Autistic Disorder	F03.625.164.113.500
D005317	Fetal Growth Retardation	C12.050.703.277.370; C16.300.390; C23.550.393.450
D010198	Pancytopenia	C15.378.243.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067560 (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
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
5.12	Kd	7501	nM	CHEMBL5653589
5.12	ED50	7501	nM	CHEMBL5653589
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
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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149253: Binding affinity to human RPL23 incubated for 45 mins by Kinobead based pull down assay	kd	7.5006	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	4
sodium arsenite	affects cotreatment, increases expression, decreases expression, increases activity	3
Arsenic Trioxide	increases expression	2
Tretinoin	affects cotreatment, increases expression, decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	increases expression, affects localization, affects cotreatment	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tetrabromobisphenol A	decreases expression	1
nickel sulfate	decreases expression	1
chloropicrin	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases 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)

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

Trial	Phase	Status	Title
NCT00347867	PHASE4	UNKNOWN	Viagra for the Treatment of IUGR
NCT00909974	PHASE4	COMPLETED	Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01390051	PHASE4	COMPLETED	Can Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight?
NCT01695070	PHASE4	COMPLETED	Melatonin to Prevent Brain Injury in Unborn Growth Restricted Babies
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT05029778	PHASE4	UNKNOWN	Arginine + Citrulline as a Supplement for Weight Gain in Fetus With a Decrease in Their Growth Curve
NCT05800938	PHASE4	COMPLETED	The Effect of Oral Isosorbide Mononitrate Therapy on Umbilical Artery Doppler Resistance Index in Pregnancies With Intrauterine Growth Restriction: Prospective Randomized Control Trial
NCT07171086	PHASE4	NOT_YET_RECRUITING	AI-POCUS for Maternal and Neonatal Health in Ethiopia
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00000597	PHASE3	COMPLETED	Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders