WDR47

Summary

WDR47 (WD repeat domain 47, HGNC:29141) is a protein-coding gene on chromosome 1p13.3, encoding WD repeat-containing protein 47 (O94967).

Predicted to act upstream of or within several processes, including detection of hot stimulus involved in thermoception; neuronal stem cell population maintenance; and telencephalon development. Predicted to be located in several cellular components, including growth cone; microtubule; and neuronal cell body.

Source: NCBI Gene 22911 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 90 total — 2 likely-pathogenic
• MANE Select transcript: NM_001142551

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29141
Approved symbol	WDR47
Name	WD repeat domain 47
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0893
Ensembl gene	ENSG00000085433
Ensembl biotype	protein_coding
OMIM	615734
Entrez	22911

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 17 protein_coding

ENST00000361054, ENST00000369962, ENST00000369965, ENST00000400794, ENST00000528747, ENST00000529074, ENST00000530772, ENST00000531337, ENST00000857077, ENST00000857078, ENST00000857079, ENST00000857080, ENST00000934296, ENST00000964924, ENST00000964925, ENST00000964926, ENST00000964927

RefSeq mRNA: 3 — MANE Select: NM_001142551 NM_001142550, NM_001142551, NM_014969

CCDS: CCDS30787, CCDS44186, CCDS44187

Canonical transcript exons

ENST00000369962 — 15 exons

Exon	Start	End
ENSE00000912860	108991254	108991329
ENSE00000912862	108995580	108995837
ENSE00000912864	109002224	109002402
ENSE00000912868	109010916	109011718
ENSE00000958031	108986523	108986680
ENSE00000958032	108983282	108983451
ENSE00000958033	108982609	108982779
ENSE00001391441	109023355	109023521
ENSE00001428395	109004592	109004715
ENSE00001451341	108970214	108971572
ENSE00001451342	108974536	108974754
ENSE00001451344	108981733	108981864
ENSE00002169259	109041862	109042102
ENSE00003495751	109013841	109013925
ENSE00003575294	109017518	109017601

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2786 / max 330.1331, expressed in 1791 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13665	16.4223	1789
13664	0.5200	231
13666	0.3364	135

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.72	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.93	gold quality
ganglionic eminence	UBERON:0004023	97.64	gold quality
orbitofrontal cortex	UBERON:0004167	97.61	gold quality
CA1 field of hippocampus	UBERON:0003881	97.41	gold quality
postcentral gyrus	UBERON:0002581	97.38	gold quality
parietal lobe	UBERON:0001872	97.25	gold quality
substantia nigra pars compacta	UBERON:0001965	97.08	gold quality
superior frontal gyrus	UBERON:0002661	97.05	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.02	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.87	gold quality
ventricular zone	UBERON:0003053	96.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.23	gold quality
superior vestibular nucleus	UBERON:0007227	96.22	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.10	gold quality
frontal pole	UBERON:0002795	95.94	gold quality
gingival epithelium	UBERON:0001949	95.91	gold quality
entorhinal cortex	UBERON:0002728	95.86	gold quality
secondary oocyte	CL:0000655	95.73	gold quality
cerebellar vermis	UBERON:0004720	95.22	gold quality
pons	UBERON:0000988	95.21	gold quality
medulla oblongata	UBERON:0001896	95.21	gold quality
prefrontal cortex	UBERON:0000451	95.15	gold quality
lateral globus pallidus	UBERON:0002476	95.02	gold quality
dorsal root ganglion	UBERON:0000044	94.94	gold quality
inferior olivary complex	UBERON:0002127	94.83	gold quality
occipital lobe	UBERON:0002021	94.74	gold quality
gingiva	UBERON:0001828	94.42	gold quality
primary visual cortex	UBERON:0002436	94.38	gold quality
oocyte	CL:0000023	94.32	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

143 targeting WDR47, 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-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 1)

• RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery. (PMID:34432492)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr47a	ENSDARG00000078136
danio_rerio	wdr47b	ENSDARG00000099757
mus_musculus	Wdr47	ENSMUSG00000040389
rattus_norvegicus	Wdr47	ENSRNOG00000020330
drosophila_melanogaster	CG2812	FBGN0034931
caenorhabditis_elegans	nmtn-1	WBGENE00019434

Protein

Protein identifiers

WD repeat-containing protein 47 — O94967 (reviewed: O94967)

Alternative names: Neuronal enriched MAP-interacting protein

All UniProt accessions (5): O94967, E9PKZ6, E9PN15, E9PNF6, E9PR96

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with MAP1S (via WD repeats).

Subcellular location. Cytoplasm. Cytoskeleton.

Isoforms (4)

UniProt ID	Names	Canonical?
O94967-1	1	yes
O94967-2	2
O94967-3	3
O94967-4	4

RefSeq proteins (3): NP_001136022, NP_001136023, NP_055784 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR006594	LisH	Conserved_site
IPR006595	CTLH_C	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR040067	WDR47	Family
IPR054532	TPL_SMU1_LisH-like	Domain
IPR057749	WDR47_COR	Domain

Pfam: PF00400, PF17814, PF25602

UniProt features (28 total): modified residue 7, repeat 7, sequence conflict 5, splice variant 3, domain 2, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94967-F1	67.49	0.33

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): 285, 289, 292, 297, 312, 422, 542

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 269 (showing top): GNF2_RTN1, GOBP_SENSORY_PERCEPTION_OF_TEMPERATURE_STIMULUS, GOBP_BEHAVIOR, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCANCTGNY_MYOD_Q6, GOBP_ADULT_BEHAVIOR, GOBP_NEUROGENESIS, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, GGGTGGRR_PAX4_03, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_FOREBRAIN_CELL_MIGRATION, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION

GO Biological Process (15): microtubule cytoskeleton organization (GO:0000226), autophagy (GO:0006914), negative regulation of microtubule depolymerization (GO:0007026), adult locomotory behavior (GO:0008344), cerebral cortex radial glia-guided migration (GO:0021801), anterior commissure morphogenesis (GO:0021960), corpus callosum development (GO:0022038), neural precursor cell proliferation (GO:0061351), motor behavior (GO:0061744), neuronal stem cell population maintenance (GO:0097150), detection of hot stimulus involved in thermoception (GO:0120168), brain development (GO:0007420), locomotory behavior (GO:0007626), cerebral cortex development (GO:0021987), neuron projection development (GO:0031175)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), microtubule (GO:0005874), dendrite (GO:0030425), growth cone (GO:0030426), neuronal cell body (GO:0043025), cytoskeleton (GO:0005856), axon (GO:0030424), neuron projection (GO:0043005)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
telencephalon development	2
anatomical structure development	2
behavior	2
binding	2
neuron projection	2
cytoskeleton organization	1
microtubule-based process	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
microtubule depolymerization	1
negative regulation of microtubule polymerization or depolymerization	1
regulation of microtubule depolymerization	1
negative regulation of protein depolymerization	1
negative regulation of supramolecular fiber organization	1
locomotory behavior	1
adult behavior	1
cerebral cortex radially oriented cell migration	1
telencephalon glial cell migration	1
central nervous system projection neuron axonogenesis	1
cell population proliferation	1
stem cell population maintenance	1
detection of temperature stimulus involved in thermoception	1
sensory perception of hot stimulus	1
central nervous system development	1
animal organ development	1
head development	1
pallium development	1
neuron development	1
plasma membrane bounded cell projection organization	1
intracellular anatomical structure	1
cellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
dendritic tree	1
site of polarized growth	1
distal axon	1
somatodendritic compartment	1
cell body	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

654 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR47	WDR37	Q9Y2I8	570
WDR47	TMEM167B	Q9NRX6	507
WDR47	FBXO33	Q7Z6M2	506
WDR47	DNAI3	Q8IWG1	497
WDR47	DNAI4	Q5VTH9	492
WDR47	RABGGTB	P53611	488
WDR47	LSMEM2	Q8N112	484
WDR47	STMN2	Q93045	478
WDR47	LSMEM1	Q8N8F7	459
WDR47	RMND5A	Q9H871	447
WDR47	FNDC7	Q5VTL7	435
WDR47	NME6	O75414	435
WDR47	CNOT6	Q9ULM6	432
WDR47	EEIG2	Q5T8I3	419
WDR47	MSH4	O15457	415

IntAct

48 interactions, top by confidence:

A	B	Type	Score
KIF24	CCP110	psi-mi:“MI:0914”(association)	0.810
TCL1A	WDR47	psi-mi:“MI:0915”(physical association)	0.560
WDR47	TCL1A	psi-mi:“MI:0915”(physical association)	0.560
ANGPTL4	NMT2	psi-mi:“MI:0914”(association)	0.530
RHEX	NOS1AP	psi-mi:“MI:0914”(association)	0.530
FAIM	WDR47	psi-mi:“MI:0914”(association)	0.500
FAIM	WDR47	psi-mi:“MI:0915”(physical association)	0.500
TCF4	OGT	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
SVIL	C2CD4B	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
NMS	MANBA	psi-mi:“MI:0914”(association)	0.350
IDS	COCH	psi-mi:“MI:0914”(association)	0.350
GLIS2	USO1	psi-mi:“MI:0914”(association)	0.350
POC1B	TACC1	psi-mi:“MI:0914”(association)	0.350
FAM163A	CRTAP	psi-mi:“MI:0914”(association)	0.350
VWA2	WDR47	psi-mi:“MI:0914”(association)	0.350
PLB1	WDR47	psi-mi:“MI:0914”(association)	0.350
SAXO5	WDR47	psi-mi:“MI:0914”(association)	0.350
COBL	WDR47	psi-mi:“MI:0914”(association)	0.350
RAB11FIP5	WDR47	psi-mi:“MI:0914”(association)	0.350
WDR47	NME2	psi-mi:“MI:0914”(association)	0.350

BioGRID (55): WDR47 (Two-hybrid), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Two-hybrid), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), WDR47 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IES7, A0JN62, A0JNW5, A2AAE1, A2AGL3, A2RSJ4, A2RT67, A2RUS2, A2RV80, B0LPN4, B1H2P5, E7F240, E9Q401, O00507, O94967, P30957, P48553, P51593, Q14161, Q2LD37, Q3TLI0, Q3UHE1, Q3UVG3, Q3UX43, Q5F361, Q5M7Q1, Q5RAQ5, Q5ZJK1, Q658Y4, Q68CL5, Q6BDS2, Q6P6Y1, Q6TEP1, Q6VNB8, Q7TMY8, Q7TSG1, Q7Z6Z7, Q8BHY8, Q8CB44, Q8CGF6

Diamond homologs: A0CH87, A0DB19, A2AHJ4, B8N9H4, O15736, O94967, P41318, Q10281, Q19124, Q2UGU1, Q40507, Q54D08, Q54MP8, Q58D20, Q676U5, Q6BH63, Q6KAU8, Q6NNP0, Q6RI45, Q756D0, Q8CGF6, Q99973, B6QC56, P49177, P93563, Q5RAC9, Q6CMA2, Q6L4F8, Q6NV31, Q8C0J2, Q93ZG3, Q9C1X1, Q9USR0, Q9UT85, A1L271, A2QPZ4, A5DBG1, A7MB12, B8AP31, G0SCK6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	73
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2673280	NM_001142551.2(WDR47):c.1976A>C (p.His659Pro)	Likely pathogenic
3067114	NM_001142551.2(WDR47):c.578G>A (p.Arg193His)	Likely pathogenic

SpliceAI

2570 predictions. Top by Δscore:

Variant	Effect	Δscore
1:108981863:CC:C	acceptor_gain	1.0000
1:108981864:CC:C	acceptor_gain	1.0000
1:108982607:A:AC	donor_gain	1.0000
1:108982608:C:CC	donor_gain	1.0000
1:108982787:A:T	acceptor_gain	1.0000
1:108983266:CATA:C	donor_gain	1.0000
1:108983269:A:AC	donor_gain	1.0000
1:108983270:C:CC	donor_gain	1.0000
1:108983277:CCTA:C	donor_loss	1.0000
1:108983279:TAC:T	donor_loss	1.0000
1:108983281:C:A	donor_loss	1.0000
1:108983447:GTGCA:G	acceptor_gain	1.0000
1:108983448:TGCA:T	acceptor_gain	1.0000
1:108983449:GCA:G	acceptor_gain	1.0000
1:108983450:CA:C	acceptor_gain	1.0000
1:108983450:CAC:C	acceptor_gain	1.0000
1:108983451:ACTG:A	acceptor_loss	1.0000
1:108983452:C:CC	acceptor_gain	1.0000
1:108983452:C:CG	acceptor_loss	1.0000
1:108986517:CCTTA:C	donor_loss	1.0000
1:108986518:CTTA:C	donor_loss	1.0000
1:108986519:TTAC:T	donor_loss	1.0000
1:108986520:TACC:T	donor_loss	1.0000
1:108986521:ACCT:A	donor_loss	1.0000
1:108986522:C:A	donor_loss	1.0000
1:108995578:A:AC	donor_gain	1.0000
1:108995579:C:CC	donor_gain	1.0000
1:108995835:GACC:G	acceptor_loss	1.0000
1:108995837:CCT:C	acceptor_loss	1.0000
1:108995838:C:CA	acceptor_loss	1.0000

AlphaMissense

6068 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:108971447:A:G	W915R	1.000
1:108971447:A:T	W915R	1.000
1:108971464:T:A	D909V	1.000
1:108971465:C:G	D909H	1.000
1:108971470:G:A	S907F	1.000
1:108971470:G:T	S907Y	1.000
1:108971473:G:A	S906F	1.000
1:108971473:G:T	S906Y	1.000
1:108971477:A:G	S905P	1.000
1:108971482:A:G	F903S	1.000
1:108971502:C:A	W896C	1.000
1:108971502:C:G	W896C	1.000
1:108971503:C:G	W896S	1.000
1:108971504:A:G	W896R	1.000
1:108971504:A:T	W896R	1.000
1:108971508:G:C	C894W	1.000
1:108971510:A:G	C894R	1.000
1:108971515:A:T	I892N	1.000
1:108971520:T:A	K890N	1.000
1:108971520:T:G	K890N	1.000
1:108971521:T:A	K890I	1.000
1:108971524:T:A	D889V	1.000
1:108974541:A:G	L871P	1.000
1:108974571:G:A	S861F	1.000
1:108974574:C:T	G860D	1.000
1:108974575:C:G	G860R	1.000
1:108974580:A:G	L858P	1.000
1:108974583:A:G	L857S	1.000
1:108974604:A:G	F850S	1.000
1:108974607:C:G	R849P	1.000

dbSNP variants (sampled 300 via entrez): RS1000031754 (1:109029352 G>A), RS1000092871 (1:109000513 A>AAAG), RS1000101251 (1:109010275 T>G), RS1000214420 (1:108992293 T>C), RS1000251257 (1:108991898 A>G), RS1000283093 (1:109042605 C>T), RS1000336037 (1:109042220 G>A), RS1000339852 (1:109023653 T>C), RS1000408199 (1:109003179 T>C), RS1000409216 (1:109006230 A>G), RS1000412738 (1:108999197 A>C,G), RS1000456543 (1:108973141 T>A), RS1000518492 (1:108985404 C>T), RS1000521837 (1:109005933 T>C), RS1000542338 (1:108984350 A>G)

Disease associations

OMIM: gene MIM:615734 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Strong	Autosomal recessive
congenital heart disease	Limited	Autosomal dominant

Mondo (3): neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038), congenital heart disease (MONDO:0005453)

Orphanet (1): Non-specific syndromic intellectual disability (Orphanet:528084)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	6
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Acetaminophen	increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
Aflatoxin B1	affects expression, decreases methylation, increases methylation	3
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
trichostatin A	affects expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
FR900359	decreases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pirinixic acid	affects binding, decreases expression, increases activity	1
pyrimidin-2-one beta-ribofuranoside	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	increases expression, increases abundance	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
licochalcone B	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	affects methylation	1
Azacitidine	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00115375	PHASE2	COMPLETED	Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220	PHASE2	COMPLETED	Transfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088	PHASE2	COMPLETED	N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785	PHASE2	COMPLETED	A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705	PHASE2	WITHDRAWN	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945	PHASE2	TERMINATED	Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712	PHASE2	COMPLETED	Safety and Effectiveness of the Device Nit-Occlud® PDA-R